Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.A36P
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CRYGD

NM_006891.4:p.A36P

Associated Papers

Crystalline gene mutations in Turkish children with congenital cataracts.

Karahan M et al.

International 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

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

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

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 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 analysis of 12 genes in Chinese families with congenital cataracts.

Sun W et al.

Molecular Vision, 2011

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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."