Varaico: Literature-Extracted Genetic Variants

Gene:CRYGA
Variant:p.R48C
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CRYGA

NM_014617.4:p.R48C

Associated Papers

Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.

Guo D et al.

Progress in Retinal and Eye Research, 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

Cataract-causing mutation R48C increases γA-crystallin susceptibility to oxidative stress and ultraviolet radiation.

Wu J et al.

International Journal of Biological Macromolecules, 2022

Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes.

Astiazarán MC et al.

American Journal of Medical Genetics. Part A, 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."