Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.R15S
Back to variants list

CRYGD

NM_006891.4:p.R15S

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

Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.

Li B et al.

Journal of Ophthalmology, 2020

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.

Zhai Y et al.

Scientific Reports, 2017

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

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

Sodium 4-phenylbutyrate ameliorates the effects of cataract-causing mutant gammaD-crystallin in cultured cells.

Gong B et al.

Molecular Vision, 2010

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."