Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.K1941delFs
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PLEC

NM_201384.3:p.K1941delFs

Associated Papers

Mutation update: The spectra of PLEC sequence variants and related plectinopathies.

Vahidnezhad H et al.

Human Mutation, 2022

Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.

Kyrova J et al.

Journal of Dermatological Case Reports, 2016

Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.

Kopečková L et al.

The British Journal of Dermatology, 2016

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