Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.K3_I4Splc
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CRYGC

NM_020989.4:p.K3_I4Splc

Associated Papers

Case report of a CRYGS gene mutation in a patient with congenital cataracts and secondary glaucoma.

Li W et al.

American Journal of Translational 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

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

Zhou Z et al.

Ophthalmology Science, 2022

Crystalline gene mutations in Turkish children with congenital cataracts.

Karahan M et al.

International Ophthalmology, 2021

Mutation screening of crystallin genes in Chinese families with congenital cataracts.

Zhuang J et al.

Molecular Vision, 2019

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."