Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.R196fs
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CRYBA1

NM_005208.5:p.R196fs

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

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

Patel N et al.

Human Genetics, 2017

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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."