Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.E626G
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COL17A1

NM_000494.4:p.E626G

Associated Papers

IC3D Classification of Corneal Dystrophies-Edition 3.

Weiss JS et al.

Cornea, 2024

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

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

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

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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."