Varaico: Literature-Extracted Genetic Variants

Gene:CRYGS
Variant:p.G18D
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CRYGS

NM_017541.4:p.G18D

Associated Papers

The 18th amino acid glycine plays an essential role in maintaining the structural stabilities of γS-crystallin linking with congenital cataract.

Zhu S et al.

International Journal of Biological Macromolecules, 2023

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families.

Fernández-Alcalde C et al.

Genes, 2021

Biology of Inherited Cataracts and Opportunities for Treatment.

Shiels A et al.

Annual Review of Vision Science, 2019

A novel missense mutation of CRYGS underlies congenital cataract in a Chinese family.

Zhang T et al.

Gene, 2018

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.

Zhai Y et al.

Scientific Reports, 2017

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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."