Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.K379_E380insFs
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GJA8

NM_005267.5:p.K379_E380insFs

Associated Papers

A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.

Zhou D et al.

Molecular Vision, 2013

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.

Burdon KP et al.

Journal of Medical Genetics, 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."