Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.G585fs
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KRT1

NM_006121.4:p.G585fs

Associated Papers

Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.

Smith FJD et al.

Clinical and Experimental Dermatology, 2019

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

Hotz A et al.

Acta Dermato-venereologica, 2016

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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."