Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.W9*
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CRYAB

NM_001289808.2:p.W9*

Associated Papers

Protein Aggregation and Cataract: Role of Age-Related Modifications and Mutations in α-Crystallins.

Budnar P et al.

Biochemistry. Biokhimiia, 2022

Inherited cataracts: Genetic mechanisms and pathways new and old.

Shiels A et al.

Experimental Eye Research, 2021

Effect of cataract-associated mutations in the N-terminal domain of αB-crystallin (HspB5).

Muranova LK et al.

Experimental Eye Research, 2020

Biology of Inherited Cataracts and Opportunities for Treatment.

Shiels A et al.

Annual Review of Vision Science, 2019

Genetics of Congenital Cataract.

Pichi F et al.

Developments in Ophthalmology, 2016

Regulation of αA- and αB-crystallins via phosphorylation in cellular homeostasis.

Thornell E et al.

Cellular and Molecular Life Sciences : Cmls, 2015

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

Yang Z et al.

Current Eye Research, 2013

The human crystallin gene families.

Wistow G

Human Genomics, 2012

Congenital cataracts and their molecular genetics.

Hejtmancik JF

Seminars in Cell & Developmental Biology, 2008

Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.

Liu M et al.

Investigative Ophthalmology & Visual Science, 2006

Arginine 54 and Tyrosine 118 residues of {alpha}A-crystallin are crucial for lens formation and transparency.

Xia CH et al.

Investigative Ophthalmology & Visual Science, 2006

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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."