Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.R59H
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CRYGD

NM_006891.4:p.R59H

Associated Papers

A mutated CRYGD associated with congenital coralliform cataracts in two Chinese pedigrees.

Cai SP et al.

International Journal of Ophthalmology, 2021

Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family.

Lin M et al.

Molecular Genetics & Genomic Medicine, 2020

33460241 (PubMed )
Supplement: MGG3-8-e1436-s001.doc

Cataract-Associated New Mutants S175G/H181Q of βΒ2-Crystallin and P24S/S31G of γD-Crystallin Are Involved in Protein Aggregation by Structural Changes.

Song IK et al.

International Journal of Molecular Sciences, 2020

Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.

Yang G et al.

Scientific Reports, 2016

A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.

Zhuang X et al.

Plos One, 2015

26147294 (PubMed )
Supplement: pone.0131471.s004.pdf

A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.

Zhai Y et al.

International Journal of Medical Sciences, 2014

sHSP in the eye lens: crystallin mutations, cataract and proteostasis.

Clark AR et al.

The International Journal of Biochemistry & Cell Biology, 2012

A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families.

Yang G et al.

Molecular Vision, 2011

Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.

Kumar M et al.

Molecular Vision, 2011

A novel human CRYGD mutation in a juvenile autosomal dominant cataract.

Roshan M et al.

Molecular Vision, 2010

A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

Zhang LY et al.

Molecular Vision, 2009

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

Hansen L et al.

Molecular Vision, 2007

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

Hansen L et al.

Investigative Ophthalmology & Visual Science, 2007

Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.

Santhiya ST et al.

Journal of Medical Genetics, 2002

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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."