Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.Q1713*
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PLEC

NM_201384.3:p.Q1713*

Associated Papers

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

Epidermolysis bullosa simplex with muscular dystrophy.

Chiavérini C et al.

Dermatologic Clinics, 2010

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

Natsuga K et al.

Human Mutation, 2010

Muscular integrity--a matter of interlinking distinct structures via plectin.

Konieczny P et al.

Advances in Experimental Medicine and Biology, 2008

Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.

Pfendner E et al.

Experimental Dermatology, 2005

Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin.

Charlesworth A et al.

The Journal of Investigative Dermatology, 2003

Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene.

Kunz M et al.

The Journal of Investigative Dermatology, 2000

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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."