Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA2
Variant:p.S47P
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CRYBA2

NM_057093.2:p.S47P

Associated Papers

Imbalances in the eye lens proteome are linked to cataract formation.

Schmid PWN et al.

Nature Structural & Molecular Biology, 2021

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

First mutation in the βA2-crystallin encoding gene is associated with small lenses and age-related cataracts.

Puk O et al.

Investigative Ophthalmology & Visual Science, 2011

Microphakia and congenital cataract formation in a novel Lim2(C51R) mutant mouse.

Puk O et al.

Molecular Vision, 2011

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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."