Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.L442insFs
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KRT10

NM_000421.5:p.L442insFs

Associated Papers

Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location.

Vodo D et al.

Clinical and Experimental Dermatology, 2018

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.

Arin MJ et al.

The British Journal of Dermatology, 2011

Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene.

Terheyden P et al.

The Journal of Investigative Dermatology, 2009

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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."