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DTSTART;TZID=Europe/Madrid:20220603T120000
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DTSTAMP:20260415T083311
CREATED:20220602T145441Z
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UID:23677-1654257600-1654263000@www.idisantiago.es
SUMMARY:TRAPPC9 gene causing intellectual disability and autism
DESCRIPTION:3 de junio de 2022.  Anfiteatro IDIS \nPONENTE: Neveen Ashaat \nIntellectual disability (ID) is a common neurodevelopmental disorder that can occur by itself (non-syndromic ID) or in combination with other clinical manifestations (syndromic ID). The Trafficking Protein Particle Complex subunit 9 (TRAPPC9) gene is one of several linked to both types of ID and autism. By using whole-exome sequencing (WES)\, we found a homozygous transition (c.2635C > T) in exon 16 of the TRAPPC9 gene. \nCartel de la jornada
URL:https://www.idisantiago.es/event/trappc9-gene-causing-intellectual-disability-and-autism/
LOCATION:Anfiteatro IDIS. Laboratorios IDIS\, planta -2. Hospital Clínico Universitario de Santiago de Compostela\, Travesa da Choupana\, S/N\, Santiago de Compostela\, A Coruña\, 15706\, España
CATEGORIES:Formación
ATTACH;FMTTYPE=image/jpeg:https://www.idisantiago.es/wp-content/uploads/2022/06/Charla.Neveen-Ashaat.jpg
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