Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.L475P
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KRT1

NM_006121.4:p.L475P

Associated Papers

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.

Gram SB et al.

Jama Dermatology, 2025

KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses.

Ying Y et al.

Human Genomics, 2020

[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects].

Kamaleswaran S et al.

Ugeskrift for Laeger, 2014

Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings.

Bygum A et al.

Acta Dermato-venereologica, 2013

Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis.

Lee DY et al.

The Journal of Investigative Dermatology, 2002

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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."