Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.S143N
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KRT6A

NM_005554.4:p.S143N

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

Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.

Duverger O et al.

Plos Genetics, 2018

A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita.

Luo S et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

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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."