Original paper
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder
Abstract
SYNCRIP encodes for the Synaptotagmin-binding cytoplasmic RNA-interacting protein, involved in RNA-binding and regulation of multiple cellular pathways. It has been proposed as a candidate gene for neurodevelopmental disorders (NDDs) with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. We ascertained genetic, clinical, and neuroradiological data of three additional individuals with novel de novo SYNCRIP variants. All...
Paper Details
Title
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder
Published Date
Jul 5, 2021
Journal
Volume
42
Issue
9
Pages
1094 - 1100
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Notes
History