Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.E1695delFs
Back to variants list

PLEC

NM_201384.3:p.E1695delFs

Associated Papers

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

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

Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.

Rouan F et al.

The Journal of Investigative Dermatology, 2000

Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations.

Dang M et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 1998

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."