Identification of novel SHANK2 variants in two Chinese families via exome and RNA sequencing

Identification of novel SHANK2 variants in two Chinese families via exome and RNA sequencing

BackgroundSHANK2 encodes a postsynaptic scaffolding protein involved in synapse formation, stabilization and homeostasis. Variations or microdeletions in the SHANK2 gene have been linked to a variety of neurodevelopmental disorders, including autism spectrum disorders (ASD) and mild to moderate inte...

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Bibliographic Details
Main Authors: Yong Wu, Wenzhou Li, Bo Tan, Sanchuan Luo
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Neuroscience
Subjects:
SHANK2
neurodevelopmental disorder
whole-exome sequencing
RNA sequencing
cohort analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2023.1275421/full

Internet

https://www.frontiersin.org/articles/10.3389/fnins.2023.1275421/full

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