Varaico: Literature-Extracted Genetic Variants

Gene:CHD3
Variant:p.R966P
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CHD3

NM_001005273.3:p.R966P

Associated Papers

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 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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