Varaico: Literature-Extracted Genetic Variants

Gene:CHD3
Variant:p.R1881L
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CHD3

NM_001005273.3:p.R1881L

Associated Papers

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

Yang K et al.

Nature, 2026

Monogenic defects in Russian children with autism spectrum disorders.

Suspitsin EN et al.

World Journal of Clinical Pediatrics, 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

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

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."