Varaico: Literature-Extracted Genetic Variants

Gene:CHD3
Variant:p.H1230R
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CHD3

NM_001005271.3:p.H1230R

Associated Papers

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

Yang K et al.

Nature, 2026

Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.

Santana Almansa A et al.

Annals of Clinical and Translational Neurology, 2024

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

Snijders Blok L et al.

Nature Communications, 2018

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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."