Varaico: Literature-Extracted Genetic Variants

Gene:CRYAA
Variant:p.R117_Y118del1
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CRYAA

NM_000394.4:p.R117_Y118del1

Associated Papers

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

Crystalline gene mutations in Turkish children with congenital cataracts.

Karahan M et al.

International Ophthalmology, 2021

Differential role of arginine mutations on the structure and functions of α-crystallin.

Panda AK et al.

Biochimica Et Biophysica Acta, 2016

A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.

Yang Z et al.

Current Eye Research, 2013

Mutation analysis of 12 genes in Chinese families with congenital cataracts.

Sun W et al.

Molecular Vision, 2011

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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."