Varaico: Literature-Extracted Genetic Variants

Gene:CHD3
Variant:p.R966W
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CHD3

NM_001005273.3:p.R966W

Associated Papers

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

Yang K et al.

Nature, 2026

Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model.

Enomoto Y et al.

European Journal of Human Genetics : Ejhg, 2025

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

A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms.

Mizukami M et al.

Brain & Development, 2021

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

Drivas TG et al.

European Journal of Human Genetics : Ejhg, 2020

32483341 (PubMed )
Supplement: 41431_2020_654_MOESM1_ESM.xlsx › Table_S1
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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."