Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.R101C
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GJA3

NM_021954.4:p.R101C

Associated Papers

Identification of the effects of pathogenic genetic variations of human CYP2C9 and CYP2D6: an in silico approach.

Avsar O

Nucleosides, Nucleotides & Nucleic Acids, 2024

Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.

Yang G et al.

Scientific Reports, 2016

A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families.

Yang G et al.

Molecular Vision, 2011

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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."