Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.R114C
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CRYBA1

NM_005208.5:p.R114C

Associated Papers

Cataract-related variant R114C increases βA3-crystallin susceptibility to environmental stresses by disrupting the protein senior structure.

Chen S et al.

International Journal of Biological Macromolecules, 2024

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

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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."