Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.L469P
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KRT6A

NM_005554.4:p.L469P

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

Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.

Wu TT et al.

The Journal of Investigative Dermatology, 2021

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

Liu J et al.

Pediatric Dermatology, 2020

Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.

Goldberg I et al.

The British Journal of Dermatology, 2020

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

Wilson NJ et al.

The British Journal of Dermatology, 2014

A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1.

Zhou HL et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2007

Clinical and pathological features of pachyonychia congenita.

Leachman SA et al.

The Journal of Investigative Dermatology. Symposium Proceedings, 2005

The genetic basis of pachyonychia congenita.

Smith FJ et al.

The Journal of Investigative Dermatology. Symposium Proceedings, 2005

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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."