Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.G123S
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GJA8

NM_005267.5:p.G123S

Associated Papers

A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.

Guo R et al.

Bmc Ophthalmology, 2022

Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

Sun W et al.

Plos One, 2014

Mutation analysis of 12 genes in Chinese families with congenital cataracts.

Sun W 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."