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Etiquetado: 23 de octubre de 2019
- Este debate tiene 117 respuestas, 2 mensajes y ha sido actualizado por última vez el hace 1 año, 3 meses por
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octubre 3, 2019 a las 10:29 am #35895
GenotipiaSuperadministradorNOTICIAS DEL JUEVES 3 DE OCTUBRE DE 2019
Investigación original: Chatsirisupachai K, et al. A human tissue‐specific transcriptomic analysis reveals a complex relationship between aging, cancer, and cellular senescence. Aging Cell. 2019. Doi: https://doi.org/10.1111/acel.13041
Investigación original: Blockquel D, et al. CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells. Proc Nat Ac Sci. 2019. Doi: https://doi.org/10.1073/pnas.1908288116
Fuente: ‘Relaxed’ enzymes may be at the root of Charcot-Marie-Tooth disease. https://www.scripps.edu/news-and-events/press-room/2019/20190930-yang-CMT.html
Investigación original: Castillo-Quan J, et al. A triple drug combination targeting components of the nutrient-sensing network maximizes longevity. Proceedings of the National Academy of Sciences. 2019. DOI: http://dx.doi.org/10.1073/pnas.1913212116
Investigación original: Yoshimi A, et al. Coordinated alterations in RNA splicing and epigenetic regulation drive leukaemogenesis. Nature. 2019. Doi: https://doi.org/10.1038/s41586-019-1618-0
Fuente: Mutant cells team up to make an even deadlier blood cancer. https://www.cshl.edu/mutant-cells-team-up-to-make-an-even-deadlier-blood-cancer/
Identificada una ruta molecular que acelera la recuperación de lesiones en nervios periféricos.
Investigación original: Frendo ME, et al. The cofilin/Limk1 pathway controls the growth rate of both developing and regenerating motor axons. J Neuros. 2019. Doi: https://doi.org/10.1523/JNEUROSCI.0648-19.2019
octubre 4, 2019 a las 9:54 am #35976GenotipiaSuperadministradorNOTICIAS DEL VIERNES 4 DE OCTUBRE DE 2019
Comunicado: Access to reproductive options after prenatal diagnosis—patient access and physician responsibilities: an updated position statement of the American College of Medical Genetics and Genomics (ACMG). Gen Med. 2019. Doi: https://doi.org/10.1038/s41436-019-0656-1
Se amplía el espectro genético y clínico del síndrome Lamb-Shaffer.
Investigación original: Zawerton A, et al. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Gen Med. 2019. Doi: https://doi.org/10.1038/s41436-019-0657-0
Revisión: Bachtiar M, et al. Towards precision medicine: interrogating the human genome to identify drug pathways associated with potentially functional, population-differentiated polymorphisms. Pharmac J. 2019. Doi: https://doi.org/10.1038/s41397-019-0096-y
Investigación original: Fiordaliso SK et al. Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. Am J Hum Gen. 2019. DOI: http://dx.doi.org/10.1016/j.ajhg.2019.09.009
Investigación original: Perera ON, et al. Telomerase promotes formation of a telomere protective complex in cancer cells. Sci Adv. 2019. Doi: http://dx.doi.org/10.1126/sciadv.aav4409
Un comentario sobre los límites científicos y éticos de la investigación con organoides de cerebro.
Comentario: Chen HI, et al. Transplantation of Human Brain Organoids: Revisiting the Science and Ethics of Brain Chimeras. Cell Stem Cell. 2019. Doi: https://doi.org/10.1016/j.stem.2019.09.002
octubre 4, 2019 a las 9:54 am #35977GenotipiaSuperadministradorNOTICIAS DEL VIERNES 4 DE OCTUBRE DE 2019
Comunicado: Access to reproductive options after prenatal diagnosis—patient access and physician responsibilities: an updated position statement of the American College of Medical Genetics and Genomics (ACMG). Gen Med. 2019. Doi: https://doi.org/10.1038/s41436-019-0656-1
Se amplía el espectro genético y clínico del síndrome Lamb-Shaffer.
Investigación original: Zawerton A, et al. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Gen Med. 2019. Doi: https://doi.org/10.1038/s41436-019-0657-0
Revisión: Bachtiar M, et al. Towards precision medicine: interrogating the human genome to identify drug pathways associated with potentially functional, population-differentiated polymorphisms. Pharmac J. 2019. Doi: https://doi.org/10.1038/s41397-019-0096-y
Investigación original: Fiordaliso SK et al. Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. Am J Hum Gen. 2019. DOI: http://dx.doi.org/10.1016/j.ajhg.2019.09.009
Investigación original: Perera ON, et al. Telomerase promotes formation of a telomere protective complex in cancer cells. Sci Adv. 2019. Doi: http://dx.doi.org/10.1126/sciadv.aav4409
Un comentario sobre los límites científicos y éticos de la investigación con organoides de cerebro.
Comentario: Chen HI, et al. Transplantation of Human Brain Organoids: Revisiting the Science and Ethics of Brain Chimeras. Cell Stem Cell. 2019. Doi: https://doi.org/10.1016/j.stem.2019.09.002
octubre 4, 2019 a las 9:54 am #35978GenotipiaSuperadministradorNOTICIAS DEL VIERNES 4 DE OCTUBRE DE 2019
Comunicado: Access to reproductive options after prenatal diagnosis—patient access and physician responsibilities: an updated position statement of the American College of Medical Genetics and Genomics (ACMG). Gen Med. 2019. Doi: https://doi.org/10.1038/s41436-019-0656-1
Se amplía el espectro genético y clínico del síndrome Lamb-Shaffer.
Investigación original: Zawerton A, et al. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Gen Med. 2019. Doi: https://doi.org/10.1038/s41436-019-0657-0
Revisión: Bachtiar M, et al. Towards precision medicine: interrogating the human genome to identify drug pathways associated with potentially functional, population-differentiated polymorphisms. Pharmac J. 2019. Doi: https://doi.org/10.1038/s41397-019-0096-y
Investigación original: Fiordaliso SK et al. Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. Am J Hum Gen. 2019. DOI: http://dx.doi.org/10.1016/j.ajhg.2019.09.009
Investigación original: Perera ON, et al. Telomerase promotes formation of a telomere protective complex in cancer cells. Sci Adv. 2019. Doi: http://dx.doi.org/10.1126/sciadv.aav4409
Un comentario sobre los límites científicos y éticos de la investigación con organoides de cerebro.
Comentario: Chen HI, et al. Transplantation of Human Brain Organoids: Revisiting the Science and Ethics of Brain Chimeras. Cell Stem Cell. 2019. Doi: https://doi.org/10.1016/j.stem.2019.09.002
octubre 7, 2019 a las 11:02 am #36080GenotipiaSuperadministradorNOTICIAS DEL LUNES 7 DE OCTUBRE DE 2019
Investigación original: Uchida N, et al. Development of a forward-oriented therapeutic lentiviral vector for hemoglobin disorders. Nat Comms. 2019. Doi: https://doi.org/10.1038/s41467-019-12456-3
Mutaciones en el gen FOXN1 producen hypoplasia tímica selectiva en humanos.
Investigación original: Du Q, et al. FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans. JCI. 2019. Doi: https://doi.org/10.1172/JCI127565
Investigación original: Latorre-Pellicer A, et al. Regulation of Mother-to-Offspring Transmission of mtDNA Heteroplasmy. Cell Metab. 2019. Doi: https://doi.org/10.1016/j.cmet.2019.09.007
Un estudio plantea la utilización del sistema CRISPR para regular el microbioma intestinal.
Investigación original: Hamilton TA, et al. Efficient inter-species conjugative transfer of a CRISPR nuclease for targeted bacterial killing. Nat Comm. 2019. Doi: https://doi.org/10.1038/s41467-019-12448-3
Fuente: Researchers unlock potential to use CRISPR to alter the microbiome. https://mediarelations.uwo.ca/2019/10/04/researchers-unlock-potential-to-use-crispr-to-alter-the-human-microbiome/
Un método para estimar la tasa de mutación del genoma completo basado en identidad por descendencia.
Investigación original: Tian X, et al. Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent. Am J Hum Gen. 2019. Doi: https://doi.org/10.1016/j.ajhg.2019.09.012
octubre 7, 2019 a las 11:02 am #36081GenotipiaSuperadministradorNOTICIAS DEL LUNES 7 DE OCTUBRE DE 2019
Investigación original: Uchida N, et al. Development of a forward-oriented therapeutic lentiviral vector for hemoglobin disorders. Nat Comms. 2019. Doi: https://doi.org/10.1038/s41467-019-12456-3
Mutaciones en el gen FOXN1 producen hypoplasia tímica selectiva en humanos.
Investigación original: Du Q, et al. FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans. JCI. 2019. Doi: https://doi.org/10.1172/JCI127565
Investigación original: Latorre-Pellicer A, et al. Regulation of Mother-to-Offspring Transmission of mtDNA Heteroplasmy. Cell Metab. 2019. Doi: https://doi.org/10.1016/j.cmet.2019.09.007
Un estudio plantea la utilización del sistema CRISPR para regular el microbioma intestinal.
Investigación original: Hamilton TA, et al. Efficient inter-species conjugative transfer of a CRISPR nuclease for targeted bacterial killing. Nat Comm. 2019. Doi: https://doi.org/10.1038/s41467-019-12448-3
Fuente: Researchers unlock potential to use CRISPR to alter the microbiome. https://mediarelations.uwo.ca/2019/10/04/researchers-unlock-potential-to-use-crispr-to-alter-the-human-microbiome/
Un método para estimar la tasa de mutación del genoma completo basado en identidad por descendencia.
Investigación original: Tian X, et al. Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent. Am J Hum Gen. 2019. Doi: https://doi.org/10.1016/j.ajhg.2019.09.012
octubre 8, 2019 a las 10:22 am #36137GenotipiaSuperadministradorNOTICIAS DEL MARTES 8 DE OCTUBRE DE 2019
Investigación original: Bogliolo M, et al. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Gen. 2019. Doi: http://dx.doi.org/10.1136/jmedgenet-2019-106249
La pérdida de actividad del gen KCNA1 produce encefalopatía epiléptica neonatal y disquinesia.
Investigación original: Verdura E, et al. Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia. J Med Gen. 2019. Doi: http://dx.doi.org/10.1136/jmedgenet-2019-106373
Investigación original: Yehl K, et al. Engineering Phage Host-Range and Suppressing Bacterial Resistance through Phage Tail Fiber Mutagenesis. Cell. 2019. Doi: https://doi.org/10.1016/j.cell.2019.09.015
Fuente: Engineered viruses could fight drug resistance. http://news.mit.edu/2019/engineered-phage-viruses-drug-resistance-1003
Investigación original: Song Y, et al. Non-immunogenic utrophin gene therapy for the treatment of muscular dystrophy animal models. Nat Med. 2019. Doi: https://doi.org/10.1038/s41591-019-0594-0
Fuente: Penn developed Gene Therapy for Duchenne Muscular Dystrophy Safely Preserves Muscle Function. https://www.pennmedicine.org/news/news-releases/2019/october/penn-developed-gene-therapy-for-duchenne-muscular-dystrophy-safely-preserves-muscle-function
Investigación original: Tin A, et al. Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. Nat Gen. 2019. Doi: https://doi.org/10.1038/s41588-019-0504-x
Identifican biomarcadores que se expresan de forma homogénea en tumores de cáncer de pulmón.
Investigación original: Biswas D, et al. A clonal expression biomarker associates with lung cancer mortality. Nat Med. 2019. Doi: https://doi.org/10.1038/s41591-019-0595-z
octubre 16, 2019 a las 11:45 am #36462GenotipiaSuperadministradorNOTICIAS DEL MIÉRCOLES 16 DE OCTUBRE DE 2019
Investigación original: Zhang Y, et al. Global impact of somatic structural variation on the DNA methylome of human cancers. Genom Bio.2019. doi: https://doi.org/10.1186/s13059-019-1818-9
Fuente: DNA fracturing rewires gene control in cancer. https://www.bcm.edu/news/cancer/dna-fracturing-rewires-gene-control-in-cancer
Investigación original: Freije CA, et al. Programmable Inhibition and Detection of RNA Viruses Using Cas13. Molecular Cell, 2019; DOI: http://dx.doi.org/10.1016/j.molcel.2019.09.013
Fuente: CRISPR enzyme programmed to kill viruses in human cells. https://www.broadinstitute.org/news/crispr-enzyme-programmed-kill-viruses-human-cells
Investigación original: Nievergelt CM, et al. International meta-analysis of PTSD genome-wideassociation studies identifies sex- and ancestry-specific genetic risk loci. Nat Com. 2019. Doi: https://doi.org/10.1038/s41467-019-12576-w
Fuente: Large study reveals PTSD has a strong genetic component like other psychiatric disorders. https://www.broadinstitute.org/news/large-study-reveals-ptsd-has-strong-genetic-component-other-psychiatric-disorders
Investigación original: McEwen LM, et al. The PedBE clock accurately estimates DNA methylation age in pediatric buccal cells. PNAS. 2019. Doi: https://doi.org/10.1073/pnas.1820843116
Fuente: New DNA “clock” could help measure development in young children. https://www.med.ubc.ca/news/new-dna-clock-could-help-measure-development-in-young-children/
Investigación original: Khan AAK, et al. Polymorphic Immune Mechanisms Regulate Commensal Repertoire. Cell Reports. 2019. Doi: https://doi.org/10.1016/j.celrep.2019.09.010
octubre 17, 2019 a las 10:46 am #36524GenotipiaSuperadministradorNOTICIAS DEL JUEVES 17 DE OCTUBRE DE 2019
Investigación original: Leu C, et al. Polygenic burden in focal and generalized epilepsies. Brain. 2019. Doi: https://doi.org/10.1093/brain/awz292
Investigación original: Miklas JW, et al. TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes. Nat com. 2019. Doi: https://doi.org/10.1038/s41467-019-12482-1
Fuente: New genetic link found for some forms of SIDS. https://newsroom.uw.edu/news/new-genetic-link-found-some-forms-sids
Fuente: Mass General performs first application of genetically modified, live-cell, pig skin to a human wound. https://www.massgeneral.org/about/pressrelease.aspx?id=2457
Investigación: K Wong et al. Constructing a reference genome that captures global genetic diversity for improved interpretation of whole genome sequencing data. Trabajo presentado en el Congreso Anual de la Sociedad Americana de Genética Humana . 2019 Oct 16. https://www.ashg.org/press/201910-reference-genome.shtml
Un estudio evalúa la contribución de la retrotranscripción en trastornos del desarrollo.
Investigación original: Gardner EJ, et al. Contribution of retrotransposition to developmental disorders. Nat Com. 2019. DOI: http://dx.doi.org/10.1038/s41467-019-12520-y
Investigación original: Mohammadi P, et al. Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science. 2019. Doi: http://dx.doi.org/10.1126/science.aay0256
Fuente: Powerful new genomics method can be used to reveal the causes of rare genetic diseases. https://www.scripps.edu/news-and-events/press-room/2019/20191010-mohammadi-aneva.html
Investigación original: Han W, et al. Shisa7 is a GABAA receptor auxiliary subunit controlling benzodiazepine actions. Science. 2019. Doi: http://dx.doi.org/10.1126/science.aax5719
Fuente: ‘Sticky’ gene may help Valium calm nerves. https://www.ninds.nih.gov/News-Events/News-and-Press-Releases/Press-Releases/sticky-gene-may-help-valium-calm-nerves
Investigación original: Zullo JM, et al. Regulation of lifespan by neural excitation and REST. Nature. 2019. Doi: https://doi.org/10.1038/s41586-019-1647-8
Fuente: New Player in Human Aging. https://hms.harvard.edu/news/new-player-human-aging
octubre 18, 2019 a las 10:30 am #36591GenotipiaSuperadministradorNOTICIAS DEL VIERNES 18 DE OCTUBRE DE 2019
Investigación original: Ramadori G, et al. S100A9 extends lifespan in insulin deficiency. Nat Com. 2019. Doi: https://doi.org/10.1038/s41467-019-11498-x
Fuente: Diabetes: a next-generation therapy soon available? https://www.unige.ch/communication/communiques/en/2019/diabete-des-traitements-de-nouvelle-generation-bientot-disponibles/
Un comentario sobre la responsabilidad ética de reinterpretar datos genéticos.
Comentario: Appelbaum PS, et al. Is there a duty to reinterpret genetic data? The ethical dimensions. Gen Med. 2019. Doi: https://doi.org/10.1038/s41436-019-0679-7
Investigación original: Lee H, et al. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Gen Med. 2019. Doi: https://doi.org/10.1038/s41436-019-0672-1
Investigación original: Flavahan WA, et al. Altered chromosomal topology drives oncogenic programs in SDH-deficient GIST. Nature. 2019. Doi: https://doi.org/10.1038/s41586-019-1668-3
Investigación original: Kanton S, et al. Organoid single-cell genomic atlas uncovers human-specific features of brain development. Nature. 2019. Doi: https://doi.org/10.1038/s41586-019-1654-9
Cómo identificar genes con valor traslacional para la práctica clínica.
Investigación original: Lee K, et al. Tracking human genes along the translational continuum. Npj Genomic Medicine. 2019. Doi: https://doi.org/10.1038/s41525-019-0100-0
El resveratrol mejora la administración de terapia génica a células madre hematopoyéticas.
Investigación original: Ozog S, et al. Resveratrol trimer enhances gene delivery to hematopoietic stem cells by reducing antiviral restriction at endosomes. Blood. 2019. Doi: https://doi.org/10.1182/blood.2019000040
Fuente: When added to gene therapy, plant-based compound may enable faster, more effective treatments. https://www.scripps.edu/news-and-events/press-room/2019/20191017-torbett-genetherapy.html
Investigación original: Kim J, et al. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. NEJM. 2019. Doi: http://dx.doi.org/10.1056/NEJMoa1813279
octubre 21, 2019 a las 11:01 am #36745
Amparo Tolosa (Coordinadora de Contenido Editorial)SuperadministradorNOTICIAS DEL LUNES 21 DE OCTUBRE DE 2019
Investigación original: Xing L, et al. Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation. Sci Transl Med. 2019. Doi: http://dx.doi.org/10.1126/scitranslmed.aax2014
Investigación original: Lin Y, et al. Cystic Fibrosis Carriers at Increased Risk of Digestive Symptoms. Trabajo presentado en el Congreso Anual de la Sociedad Americana de Genética Humana . 2019 Oct 17. https://www.ashg.org/press/201910-cf-carriers.shtml
Investigación original: Díaz-Castro B, et al. Astrocyte molecular signatures in Huntington’s disease. Sci Transl Med. 2019. Doi: http://dx.doi.org/10.1126/scitranslmed.aaw8546
Investigación original: Feldman D, et al. Optical Pooled Screens in Human Cells. Cell. 2019. Doi: https://doi.org/10.1016/j.cell.2019.09.016
Fuente: Imaging combined with genetic screening of cells enhances genomic discoveries. https://www.broadinstitute.org/news/imaging-combined-genetic-screening-cells-enhances-genomic-discoveries
Desarrollado un modelo embrionario que permitirá estudiar las primeras fases del desarrollo humano.
Investigación original: Li R, et al. Generation of Blastocyst-like Structures from Mouse Embryonic and Adult Cell Cultures. Cell. 2019. Doi: https://doi.org/10.1016/j.cell.2019.09.029
Fuente: Stem cell study offers new way to study early development and pregnancy. https://www.salk.edu/news-release/stem-cell-study-offers-new-way-to-study-early-development-and-pregnancy/
octubre 22, 2019 a las 10:20 am #36798GenotipiaSuperadministradorNOTICIAS DEL MARTES 22 DE OCTUBRE DE 2019
Investigación original: Kruger AN, et al. A Neofunctionalized X-Linked Ampliconic Gene Family Is Essential for Male Fertility and Equal Sex Ratio in Mice. Current Biology. 2019. Doi: https://doi.org/10.1016/j.cub.2019.08.057
Un estudio evalúa las alteraciones de los telómeros en pacientes con neurofibromatosis tipo 1.
Investigación original: Rodriguez FJ, et al. Telomere alterations in neurofibromatosis type 1-associated solid tumors. Acta Neuropatologica Comm. 2019. Doi: https://doi.org/10.1186/s40478-019-0792-5
Fuente: Changes in Chromosome Caps May be A Marker for Tumor Aggression in Neurofibromatosis Type 1. https://www.hopkinsmedicine.org/news/newsroom/news-releases/changes-in-chromosome-caps-may-be-a-marker-for-tumor-aggression-in-neurofibromatosis-type-1
Investigación original: Luirink IK, et al. 20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia. NEJM. 2019. Doi: http://dx.doi.org/10.1056/NEJMoa1816454
Una estrategia, basada en CRISPR, para aumentar la respuesta inmunitaria contra el cáncer.
Investigación original: Wang G, et al. Multiplexed activation of endogenous genes by CRISPRa elicits potent antitumor immunity. Nat Imm. 2019. Doi: https://doi.org/10.1038/s41590-019-0500-4
Investigación original: Mancini-DiNardo D, et al. Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing. BMC Medical Genomics. 2019. Doi: https://doi.org/10.1186/s12920-019-0587-3
octubre 23, 2019 a las 10:21 am #36879GenotipiaSuperadministradorNOTICIAS DEL MIÉRCOLES 23 DE OCTUBRE DE 2019
Investigación original: Bustamante-Marin XM, et al. Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. J Hum Gen. 2019. Doi: https://doi.org/10.1038/s10038-019-0686-1
Investigación original: Stowell RD, et al. Noradrenergic signaling in the wakeful state inhibits microglial surveillance and synaptic plasticity in the mouse visual cortex. Nat Neuros. 2019. Doi: https://doi.org/10.1038/s41593-019-0514-0
Investigación original: Chen CJ, et al. Therapeutic inhibition of mTORC2 rescues the behavioral and neurophysiological abnormalities associated with Pten-deficiency. Nat Med. 2019. Doi: https://doi.org/10.1038/s41591-019-0608-y
Fuente: New therapeutic strategy may help PTEN mutation symptoms. https://www.bcm.edu/news/neuroscience/strategy-autism-behavioral-abnormalities
Investigación original: Satizabal CL, et al. Genetic architecture of subcortical brain structures in 38,851 individuals. Nat Gen. 2019. Doi: https://doi.org/10.1038/s41588-019-0511-y
Investigación original: Ansar M, et al. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. Am J Hum Gen. 2019. Doi: https://doi.org/10.1016/j.ajhg.2019.09.013
Fuente: IQSEC1 gene mutations cause new intellectual disability syndrome. https://blogs.bcm.edu/2019/10/22/from-the-labs-iqsec1-gene-mutations-cause-new-intellectual-disability-syndrome/
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