Varaico: Literature-Extracted Genetic Variants

Gene:CHD4
Variant:p.G1003D
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CHD4

NM_001273.5:p.G1003D

Associated Papers

In silico Analysis of CHD4 Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases.

Novillo A et al.

Human Mutation, 2026

Chromatin Remodulator CHD4: A Potential Target for Cancer Interception.

Goswami K et al.

Genes, 2025

Generation of a Well-Characterized Homozygous Chromodomain-Helicase-DNA-Binding Protein 4G1003D Mutant hESC Line Using CRISPR/eCas9 (ULIEGEe001-A-1).

Chohra I et al.

International Journal of Molecular Sciences, 2023

Transition from Animal-Based to Human Induced Pluripotent Stem Cells (iPSCs)-Based Models of Neurodevelopmental Disorders: Opportunities and Challenges.

Guerreiro S et al.

Cells, 2023

A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1).

Da Silva JD et al.

Biomedicines, 2022

36672520 (PubMed )
Supplement: biomedicines-11-00012-s001.zip › Table_S2-S5.xlsx › Table_S5

CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.

Liu XR et al.

Cns Neuroscience & Therapeutics, 2021

Nucleosome-CHD4 chromatin remodeler structure maps human disease mutations.

Farnung L et al.

Elife, 2020

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

Keppler-Noreuil KM et al.

American Journal of Medical Genetics. Part A, 2017

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

Weiss K et al.

American Journal of Human Genetics, 2016

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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."