Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.Q2575*
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PLEC

NM_201384.3:p.Q2575*

Associated Papers

Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.

Ota VK et al.

Clinical and Experimental Dermatology, 2025

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

Plectin-related skin diseases.

Natsuga K

Journal of Dermatological Science, 2015

Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.

Charlesworth A et al.

The British Journal of Dermatology, 2013

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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."