Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.I116F
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CRYBA1

NM_005208.5:p.I116F

Associated Papers

Identification of co-segregating GJA3 and CRYBA1 missense variants in a Chinese family with congenital cataract: a possible digenic etiology.

Zhou C et al.

Frontiers in Medicine, 2025

A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.

Gu Z et al.

Molecular Vision, 2010

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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."