Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.G149V
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CRYBB2

NM_000496.3:p.G149V

Associated Papers

Cataract-Causing Mutant R188C of βB2 Crystallin With Low Structural Stability is Sensitive to Environmental Stresses and Prone to Aggregates Formation.

Yu Y et al.

Exploration (beijing, China), 2025

Reversible cold-induced lens opacity in a hibernator reveals a molecular target for treating cataracts.

Yang H et al.

The Journal of Clinical Investigation, 2024

Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation.

Wu J et al.

Biomolecules, 2023

Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report.

Shi J et al.

Bmc Ophthalmology, 2023

Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.

Sun Z et al.

Molecular Vision, 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."