Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.S40_G41insFs
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CRYGC

NM_020989.4:p.S40_G41insFs

Associated Papers

Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.

Guo D et al.

Progress in Retinal and Eye Research, 2025

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

Biology of Inherited Cataracts and Opportunities for Treatment.

Shiels A et al.

Annual Review of Vision Science, 2019

Mutations and mechanisms in congenital and age-related cataracts.

Shiels A et al.

Experimental Eye Research, 2017

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.

Kondo Y et al.

Molecular Vision, 2013

Overexpression of human γC-crystallin 5 bp duplication disrupts lens morphology in transgenic mice.

Ma Z et al.

Investigative Ophthalmology & Visual Science, 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."