Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.F191I
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KRT1

NM_006121.4:p.F191I

Associated Papers

Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population.

Nakano H et al.

The Journal of Investigative Dermatology, 2006

Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis.

Chassaing N et al.

The Journal of Investigative Dermatology, 2006

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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."