Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.V44M
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CRYBA4

NM_001886.3:p.V44M

Associated Papers

Novel mutations associated with autosomal-dominant congenital cataract identified in Chinese families.

Wang Z et al.

Experimental and Therapeutic Medicine, 2019

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

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."