Varaico: Literature-Extracted Genetic Variants

Gene:KRT3
Variant:p.R84W
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KRT3

NM_057088.3:p.R84W

Associated Papers

Meesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.

Charoenrook V et al.

International Journal of Molecular Sciences, 2026

A Novel Pathogenic Variant in the KRT3 Gene in a Family with Meesmann Corneal Dystrophy.

De Faria A et al.

Journal of Clinical Medicine, 2025

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

In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy.

Nishino T et al.

Japanese Journal of Ophthalmology, 2019

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

Chen JL et al.

Molecular Vision, 2015

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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."