Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.F174I
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KRT6A

NM_005554.4:p.F174I

Associated Papers

KRT6A Variant Underlies Pachyonychia Congenita: Insights Into Protein Aggregation and PPAR Signaling.

Ren Y et al.

American Journal of Medical Genetics. Part A, 2026

Generalized bullae in a young girl with KRT6A-related pachyonychia congenita.

Liu J et al.

Pediatric Dermatology, 2020

Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.

Forrest CE et al.

Pediatric Dermatology, 2016

The molecular genetic analysis of the expanding pachyonychia congenita case collection.

Wilson NJ et al.

The British Journal of Dermatology, 2014

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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."