Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.G60S
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GJA8

NM_005267.5:p.G60S

Associated Papers

Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3.

Vanita V et al.

Frontiers in Pediatrics, 2022

Novel mutation of GJA8 in autosomal dominant congenital cataracts.

Ding N et al.

Annals of Translational Medicine, 2020

Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.

Gong XQ et al.

The Journal of Biological Chemistry, 2007

Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis.

Xia CH et al.

Development (cambridge, England), 2006

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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."