Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.R2545W
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PLEC

NM_201384.3:p.R2545W

Associated Papers

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.

Vermeer FC et al.

International Journal of Molecular Sciences, 2021

Plectin-related skin diseases.

Natsuga K

Journal of Dermatological Science, 2015

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

Winter L et al.

Acta Neuropathologica, 2013

Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.

Natsuga K et al.

Human Mutation, 2010

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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."