Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.R140C
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GJA3

NM_021954.4:p.R140C

Associated Papers

In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract.

Zhang M et al.

Bmc Molecular and Cell Biology, 2020

32143568 (PubMed )
Supplement: 12860_2020_252_MOESM1_ESM.xlsx › Sheet1

A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.

Zhai Y et al.

International Journal of Medical Sciences, 2014

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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."