Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.E135*
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CRYGC

NM_020989.4:p.E135*

Associated Papers

Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.

Delas F et al.

International Journal of Molecular Sciences, 2023

A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea.

Zhou Z et al.

Ophthalmology Science, 2022

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

Patel N et al.

Human Genetics, 2017

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

Yang G et al.

Scientific Reports, 2016

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

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 nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.

Zhang L et al.

Molecular Vision, 2009

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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."