Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.D47Y
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GJA1

NM_000165.5:p.D47Y

Associated Papers

Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.

Yu Y et al.

Scientific Reports, 2016

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

Azaiez H et al.

Human Mutation, 2004

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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."