Varaico: Literature-Extracted Genetic Variants

Gene:CRYAA
Variant:p.H115_Y118del0
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CRYAA

NM_000394.4:p.H115_Y118del0

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

Biology of Inherited Cataracts and Opportunities for Treatment.

Shiels A et al.

Annual Review of Vision Science, 2019

Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.

Li L et al.

Scientific Reports, 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."