Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.S78F
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CRYGD

NM_006891.4:p.S78F

Associated Papers

Mimicking oxidative damage in γS-crystallin with site-specific incorporation of 5-hydroxytryptophan.

Seo Y et al.

Biophysical Reports, 2026

41548873 (PubMed )
Supplement: mmc2.pdf

Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family.

Gao Y et al.

Frontiers in Genetics, 2022

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

Li J et al.

Orphanet Journal of Rare Diseases, 2018

[Gene mapping and mutation detection in a family with congenital nuclear cataract].

Liu P et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 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."