Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in <i>BUD13</i>, a Component of the Retention and Splicing (RES) Complex

Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in <i>BUD13</i>, a Component of the Retention and Splicing (RES) Complex

Specific language impairment (SLI) is a common neurodevelopmental disorder (NDD) that displays high heritability estimates. Genetic studies have identified several loci, but the molecular basis of SLI remains unclear. With the aim to better understand the genetic architecture of SLI, we performed wh...

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Bibliographic Details
Main Authors: Erin M. Andres, Kathleen Kelsey Earnest, Cuncong Zhong, Mabel L. Rice, Muhammad Hashim Raza
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:Brain Sciences
Subjects:
specific language impairment (SLI)
language
family-based
complex inheritance
multiple hit model
oligogenic
Online Access:https://www.mdpi.com/2076-3425/12/1/47

Internet

https://www.mdpi.com/2076-3425/12/1/47

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