Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.S93R
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CRYBB1

NM_001887.4:p.S93R

Associated Papers

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

Li M et al.

Archives of Biochemistry and Biophysics, 2025

Cataract-causing Y204X mutation of crystallin protein CRYβB1 promotes its C-terminal degradation and higher-order oligomerization.

Jing X et al.

The Journal of Biological Chemistry, 2023

Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family.

Gao Y et al.

Frontiers in Genetics, 2022

A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia.

Jin A et al.

Current Eye Research, 2020

[Gene mapping and mutation detection in a family with congenital nuclear cataract].

Liu P et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2009

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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."