Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.S45T
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CRYAB

NM_001289808.2:p.S45T

Associated Papers

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.

Min HY et al.

Chinese Medical Journal, 2016

A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts.

Dang FT et al.

International Journal of Ophthalmology, 2016

Congenital cataracts and their molecular genetics.

Hejtmancik JF

Seminars in Cell & Developmental Biology, 2008

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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."