Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.L468Q
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KRT6A

NM_005554.4:p.L468Q

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

Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1.

Lv YM et al.

The British Journal of Dermatology, 2009

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

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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."