Varaico: Literature-Extracted Genetic Variants

Gene:CHD4
Variant:p.V1608I
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CHD4

NM_001273.5:p.V1608I

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

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK8_het

Clear Cell Adenocarcinoma of Urethra: Clinical and Pathologic Implications and Characterization of Molecular Aberrations.

Song B et al.

Cancer Research and Treatment, 2024

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.

Murphy AJ et al.

Nature Communications, 2023

38110397 (PubMed )
Supplement: 41467_2023_43730_MOESM5_ESM.xlsx › SJCRH

Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.

Turkdogan D et al.

The International Journal of Neuroscience, 2023

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Audain E et al.

Plos Genetics, 2021

34324492 (PubMed )
Supplement: pgen.1009679.s019.xlsx › Sheet_B

Nucleosome-CHD4 chromatin remodeler structure maps human disease mutations.

Farnung L et al.

Elife, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Iranome: A catalog of genomic variations in the Iranian population.

Fattahi Z et al.

Human Mutation, 2019

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Sifrim A et al.

Nature Genetics, 2016

27479907 (PubMed )
Supplement: NIHMS69098-supplement-Supplementary_figures.pdf

Association of the chromodomain helicase DNA-binding protein 4 (CHD4) missense variation p.D140E with cancer: potential interaction with smoking.

Yamada M et al.

Genes, Chromosomes & Cancer, 2015

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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."