Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.I172N
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KRT5

NM_000424.4:p.I172N

Associated Papers

Oral Manifestations in Different Subtypes of Hereditary Epidermolysis Bullosa: A Retrospective Case Series From an Asian Cohort.

Li ML et al.

Oral Diseases, 2025

Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.

Chen F et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.

Tu WT et al.

Orphanet Journal of Rare Diseases, 2022

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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."