Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.S128del1
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KRT14

NM_000526.5:p.S128del1

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

Autosomal dominant epidermolysis bullosa simplex exacerbated by hyperkeratotic scabies.

Lin YC et al.

The Journal of Dermatology, 2022

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.

Sathishkumar D et al.

The Journal of Investigative Dermatology, 2016

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

Bolling MC et al.

The British Journal of Dermatology, 2011

Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.

Wood P et al.

The Journal of Investigative Dermatology, 2003

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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."