Varaico: Literature-Extracted Genetic Variants

Gene:CHD3
Variant:p.K1028E
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CHD3

NM_001005271.3:p.K1028E

Associated Papers

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

Yang K et al.

Nature, 2026

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."