Varaico: Literature-Extracted Genetic Variants

Gene:CHD3
Variant:p.A1955S
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CHD3

NM_001005273.3:p.A1955S

Associated Papers

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

Yang K et al.

Nature, 2026

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Blackburn PR et al.

Annals of Neurology, 2024

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

Pascual P et al.

Genes, 2023

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.

Blackburn PR et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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

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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."