Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.R466P
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KRT6A

NM_005554.4:p.R466P

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

Phenotype and genotype features of Vietnamese children with pachyonychia congenita.

Chu HT et al.

Pediatrics and Neonatology, 2023

First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population.

Chiriac A et al.

Maedica, 2017

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