Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA2
Variant:p.V50M
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CRYBA2

NM_057093.2:p.V50M

Associated Papers

A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract.

Liu Y et al.

Gene, 2024

A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family.

Kong Y et al.

Molecular Genetics and Genomics : Mgg, 2023

Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

Taylan Şekeroğlu H et al.

Turkish Journal of Ophthalmology, 2021

Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.

Sun Z et al.

Molecular Vision, 2017

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

Reis LM et al.

Human Genetics, 2013

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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."