Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.Q2538*
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PLEC

NM_201384.3:p.Q2538*

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

[Epidermolysis bullosa simplex].

Dereure O

Annales De Dermatologie Et De Venereologie, 2006

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

Pfendner E et al.

Experimental Dermatology, 2005

Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).

Nakamura H et al.

The Journal of Molecular Diagnostics : Jmd, 2005

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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."