Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.E2596delFs
Back to variants list

PLEC

NM_201384.3:p.E2596delFs

Associated Papers

Psoriasis bullosa acquisita.

Morris SD et al.

Clinical and Experimental Dermatology, 2002

Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

Whittock NV et al.

The Journal of Investigative Dermatology, 1999

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).

Järvikallio A et al.

Human Mutation, 1997

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."