Varaico: Literature-Extracted Genetic Variants

Gene:CHD4
Variant:p.W1148L
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CHD4

NM_001273.5:p.W1148L

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

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

Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins.

Cardoso AR et al.

Genes, 2021

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

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Weiss K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L et al.

Nature Communications, 2018

30397230 (PubMed )
Supplement: 41467_2018_6014_MOESM1_ESM.pdf

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."