Varaico: Literature-Extracted Genetic Variants

Gene:CHD2
Variant:p.S112*
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CHD2

NM_001271.4:p.S112*

Associated Papers

Epilepsy Phenotypic Spectrum of NUS1-Related Disorder: A Case Series.

Ahmadi S et al.

Annals of the Child Neurology Society, 2026

Behavioral and epileptic phenotypes in a CHD2-related developmental delay model.

Mavashov A et al.

Epilepsia, 2025

A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy.

Zhu L et al.

Frontiers in Genetics, 2022

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."