Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.C42fs
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CRYGC

NM_020989.4:p.C42fs

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

Biology of Inherited Cataracts and Opportunities for Treatment.

Shiels A et al.

Annual Review of Vision Science, 2019

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

Zhong Z et al.

Scientific Reports, 2017

Mutations and mechanisms in congenital and age-related cataracts.

Shiels A et al.

Experimental Eye Research, 2017

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

Kondo Y et al.

Molecular Vision, 2013

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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."