Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.Y159*
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CRYBB2

NM_000496.3:p.Y159*

Associated Papers

A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family.

Zhou Y et al.

Journal of Ophthalmology, 2016

Molecular and structural analysis of genetic variations in congenital cataract.

Kumar M et al.

Molecular Vision, 2013

Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.

Yao K et al.

Molecular Vision, 2011

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

Hansen L et al.

Investigative Ophthalmology & Visual Science, 2009

A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.

Faletra F et al.

Ophthalmic Genetics, 0

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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."