Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome Sequencing

Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome Sequencing

Advances in high-throughput technologies and its implementation worldwide have had a considerable impact on the elucidation of the molecular causes underlying neurodevelopmental psychiatric disorders, especially for autism spectrum disorder and intellectual disability (ID). Nevertheless, etiology re...

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Bibliographic Details
Main Authors: Maria Isabel Alvarez-Mora, Jordi Corominas, Christian Gilissen, Aurora Sanchez, Irene Madrigal, Laia Rodriguez-Revenga
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Genes
Subjects:
<i>TRAPPC9</i>
whole genome sequencing
neurodevelopmental disorders
neuropsychiatric disorders
compound heterozygous mutations
missense mutation
Online Access:https://www.mdpi.com/2073-4425/12/4/557

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https://www.mdpi.com/2073-4425/12/4/557

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