Associated Papers
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Kivelä TT et al.
Journal of Medical Genetics, 2024
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Turunen JA et al.
Acta Ophthalmologica, 2024
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U et al.
Journal of Medical Genetics, 2024
37979963 (PubMed )
Supplement: jmg-2023-109510supp001.pdf
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
A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa.
Hoffmann J et al.
Acta Dermato-venereologica, 2019
Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family.
Vahedi F et al.
Cornea, 2018
Whole exome sequencing: Uncovering causal genetic variants for ocular diseases.
Gupta S et al.
Experimental Eye Research, 2017
Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.
Evans CJ et al.
Investigative Ophthalmology & Visual Science, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.
Oliver VF et al.
Ophthalmology, 2016
Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).
Jonsson F et al.
Human Mutation, 2015
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A et al.
Journal of Veterinary Internal Medicine, 0
37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2C-clinvar_COL17A1
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