Varaico: Literature-Extracted Genetic Variants

Gene:COL8A2
Variant:p.R434H
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COL8A2

NM_005202.4:p.R434H

Associated Papers

Genetic Therapy of Fuchs Endothelial Corneal Dystrophy: Where Are We? A Review.

Stunf Pukl S

Genes, 2025

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_S3_.xlsx › Sheet1

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.

Li W et al.

Frontiers in Cell and Developmental Biology, 2021

33816482 (PubMed )
Supplement: Data_Sheet_1.XLSX › Supplementary_Data_1

Genetics of the corneal endothelial dystrophies: an evidence-based review.

Aldave AJ et al.

Clinical Genetics, 2013

Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.

Igo RP et al.

Plos One, 2012

23110055 (PubMed )
Supplement: pone.0046742.s005.xls › COL8A2_tallies

Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.

Hemadevi B et al.

Bmc Ophthalmology, 2010

Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.

Mok JW et al.

Eye (london, England), 2009

Genome-wide linkage scan in fuchs endothelial corneal dystrophy.

Afshari NA et al.

Investigative Ophthalmology & Visual Science, 2009

Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy.

Mehta JS et al.

Investigative Ophthalmology & Visual Science, 2008

Keratoconus is not associated with mutations in COL8A1 and COL8A2.

Aldave AJ et al.

Cornea, 2007

No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.

Aldave AJ et al.

Investigative Ophthalmology & Visual Science, 2006

Genetics of corneal dystrophies: the evolving landscape.

Pieramici SF et al.

Current Opinion in Ophthalmology, 2006

Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.

Gottsch JD et al.

Investigative Ophthalmology & Visual Science, 2005

Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.

Kobayashi A et al.

Japanese Journal of Ophthalmology, 0

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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."