Varaico: Literature-Extracted Genetic Variants

Gene:DCN
Variant:p.G316fs
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DCN

NM_001920.5:p.G316fs

Associated Papers

Congenital stromal corneal dystrophy in a Spanish family: Clinical, genetic and histological analysis.

Gómez-Calleja V et al.

Journal Francais D'ophtalmologie, 2024

Novel DCN Mutation in Armenian Family With Congenital Stromal Corneal Dystrophy.

Williams D et al.

Cornea, 2023

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.

Morikawa H et al.

Human Genome Variation, 2023

36964172 (PubMed )
Supplement: 41439_2023_239_MOESM2_ESM.xlsx › Sheet1

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

Zhu D et al.

International Journal of Molecular Sciences, 2023

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.

Mizumoto S et al.

Pharmaceuticals (basel, Switzerland), 2017

Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy.

Jing Y et al.

Cornea, 2014

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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."