Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.S166F
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CRYGC

NM_020989.4:p.S166F

Associated Papers

Case Report: A family of congenital cataract caused by a novel mutation in the CRYGC gene c.52G>A.

Ma S et al.

Frontiers in Medicine, 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

Mutational spectrum in a Chinese cohort with congenital cataracts.

Liu HL et al.

Molecular Genetics & Genomic Medicine, 2023

37337769 (PubMed )
Supplement: MGG3-11-e2196-s001.xlsx › Sheet2

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

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

Zhou Z et al.

Ophthalmology Science, 2022

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.

Fan F et al.

Bmc Ophthalmology, 2020

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

Zhong Z et al.

Scientific Reports, 2017

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Prokudin I et al.

European Journal of Human Genetics : Ejhg, 2014

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."