Varaico: Literature-Extracted Genetic Variants

Gene:EPB41
Variant:p.S76N
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EPB41

NM_001376013.1:p.S76N

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

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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."