Varaico: Literature-Extracted Genetic Variants

Gene:CHD3
Variant:p.R985W
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CHD3

NM_001005273.3:p.R985W

Associated Papers

In vivo base editing of Chd3 rescues behavioural abnormalities in mice.

Yang K et al.

Nature, 2026

Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok-Campeau Syndrome.

Tie X et al.

American Journal of Medical Genetics. Part A, 2025

Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations.

Gao Y et al.

Frontiers in Genetics, 2024

Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.

Pascual P et al.

Genes, 2023

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

Snijders Blok L et al.

Nature Communications, 2018

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
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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."