Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.R77S
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CRYGD

NM_006891.4:p.R77S

Associated Papers

Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.

Wang KJ et al.

Orphanet Journal of Rare Diseases, 2023

A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities.

Ni SH et al.

European Journal of Ophthalmology, 2022

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

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

Disability for function: loss of Ca(2+)-binding is obligatory for fitness of mammalian βγ-crystallins.

Suman SK et al.

Biochemistry, 2013

A CRYGC gene mutation associated with autosomal dominant pulverulent cataract.

González-Huerta LM et al.

Gene, 2013

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

A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family.

Wang L 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 family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity.

Gonzalez-Huerta LM et al.

Molecular Vision, 2007

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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."