Varaico: Literature-Extracted Genetic Variants

Gene:KRT6C
Variant:p.N172_K173del1
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KRT6C

NM_173086.5:p.N172_K173del1

Associated Papers

Proteomic profiling reveals KRT6C as a probable hereterodimer partner for KRT9: New insights into re-classifying epidermolytic palmoplantar keratoderma (EPPK) and a milder form of pachyonychia congenita (PC-K6c) as a group of genetic cutaneous disorders.

Li P et al.

Journal of Proteomics, 2023

Palmoplantar keratodermas: clinical and genetic aspects.

Has C et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2016

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

Wilson NJ et al.

The British Journal of Dermatology, 2014

[Keratin k6c mutations in focal palmoplantar keratoderma].

Dereure O

Annales De Dermatologie Et De Venereologie, 2010

Keratin K6c mutations cause focal palmoplantar keratoderma.

Wilson NJ et al.

The Journal of Investigative Dermatology, 2010

Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma.

Bowden PE

The Journal of Investigative Dermatology, 2010

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