Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.Q1999*
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PLEC

NM_000445.5:p.Q1999*

Associated Papers

Muscle-Related Plectinopathies.

Zrelski MM et al.

Cells, 2021

Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna.

Walko G et al.

Plos Genetics, 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."