Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.L1673fs
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PLEC

NM_000445.5:p.L1673fs

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

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.

Winter L et al.

Acta Neuropathologica Communications, 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."