Varaico: Literature-Extracted Genetic Variants

Gene:MIP
Variant:p.V44M
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MIP

NM_012064.4:p.V44M

Associated Papers

Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts.

Mohebi M et al.

Iranian Journal of Basic Medical Sciences, 2017

Connexin mutants and cataracts.

Beyer EC et al.

Frontiers in Pharmacology, 2013

A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.

Bennett TM et al.

Molecular Vision, 2011

Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3).

Zhou Z et al.

Molecular Vision, 2010

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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."