Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.L7V
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GJA3

NM_021954.4:p.L7V

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

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

De Bock M et al.

Frontiers in Pharmacology, 2013

Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.

Shao Q et al.

Molecular Biology of the Cell, 2012

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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."