Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.Y134*
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CRYGC

NM_020989.4:p.Y134*

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

A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.

Kandaswamy DK et al.

Ophthalmic Genetics, 2020

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Gillespie RL et al.

Ophthalmology, 2014

A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.

Zhai Y et al.

International Journal of Medical Sciences, 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."