Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.A72Splc
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CRYBA1

NM_005208.5:p.A72Splc

Associated Papers

A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities.

Ni SH et al.

European Journal of Ophthalmology, 2022

The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.

Li D et al.

Bmc Medical Genetics, 2019

Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract.

Wang KJ et al.

Current Eye Research, 2018

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family.

Yang Z et al.

Molecular Vision, 2012

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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."