Varaico: Literature-Extracted Genetic Variants

Gene:COL8A2
Variant:p.R304Q
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COL8A2

NM_005202.4:p.R304Q

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

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

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Hocking JC et al.

Plos Genetics, 2018

29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1

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

Aldave AJ et al.

Clinical Genetics, 2013

Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.

Desronvil T et al.

Molecular Vision, 2010

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

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

Molecular genetics of cataract.

Kannabiran C et al.

Indian Journal of Ophthalmology, 2000

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."