Varaico: Literature-Extracted Genetic Variants

Gene:CRYAA
Variant:p.L139P
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CRYAA

NM_000394.4:p.L139P

Associated Papers

Influence of Cataract Causing Mutations on αA-Crystallin: A Computational Approach.

Abrol K et al.

The Protein Journal, 2024

Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.

Tedesco B et al.

Frontiers in Molecular Biosciences, 2022

35281256 (PubMed )
Supplement: DataSheet1.docx

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.

Marakhonov AV et al.

Orphanet Journal of Rare Diseases, 2020

Mutation analysis of two families with inherited congenital cataracts.

Liang C et al.

Molecular Medicine Reports, 2015

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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."