Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.C185fs
Back to variants list

CRYBA1

NM_005208.5:p.C185fs

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

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

Li J et al.

Orphanet Journal of Rare Diseases, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."