Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.Q70P
Back to variants list

CRYBB1

NM_001887.4:p.Q70P

Associated Papers

Potential role of βB1 crystallin in cataract formation:a systematic review.

Li M et al.

Archives of Biochemistry and Biophysics, 2025

A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.

Ji Y et al.

European Journal of Ophthalmology, 2021

Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese families.

Yu Y et al.

Molecular Genetics & Genomic Medicine, 2021

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."