Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.Q2030*
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PLEC

NM_201384.3:p.Q2030*

Associated Papers

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

Vahidnezhad H et al.

Human Mutation, 2022

Muscle-Related Plectinopathies.

Zrelski MM et al.

Cells, 2021

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

Kyrova J et al.

Journal of Dermatological Case Reports, 2016

The many faces of plectin and plectinopathies: pathology and mechanisms.

Winter L et al.

Acta Neuropathologica, 2013

Myasthenic syndrome caused by plectinopathy.

Selcen D et al.

Neurology, 2011

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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."