Varaico: Literature-Extracted Genetic Variants

Gene:DCN
Variant:p.C346G
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DCN

NM_001920.5:p.C346G

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

Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans.

Matsushima N et al.

Journal of Cell Communication and Signaling, 2021

Regulation of corneal stroma extracellular matrix assembly.

Chen S et al.

Experimental Eye Research, 2015

A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family.

Lee JH et al.

Korean Journal of Ophthalmology : Kjo, 2012

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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."