Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.Y204*
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CRYBB1

NM_001887.4:p.Y204*

Associated Papers

Analysis of mouse lens morphological and proteomic abnormalities following deletion of the βB3-crystallin promoter.

Rayêe D et al.

Experimental Eye Research, 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

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

Li J et al.

Orphanet Journal of Rare Diseases, 2018

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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."