Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.I21N
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CRYBB2

NM_000496.3:p.I21N

Associated Papers

Whole-exome sequencing identification of a recurrent CRYBB2 variant in a four-generation Chinese family with congenital nuclear cataracts.

Chen D et al.

Experimental and Therapeutic Medicine, 2021

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

Zhou Y et al.

Journal of Ophthalmology, 2016

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

Molecular and structural analysis of genetic variations in congenital cataract.

Kumar M et al.

Molecular Vision, 2013

Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts.

Wang KJ et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2011

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."