Varaico: Literature-Extracted Genetic Variants

Gene:PLAUR
Variant:p.C28delFs
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PLAUR

NM_002659.4:p.C28delFs

Associated Papers

Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.

Taylor JA et al.

The Australasian Journal of Dermatology, 2016

Heterozygous manifestations in female carriers of Mal de Meleda.

Mokni M et al.

Clinical Genetics, 2004

A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.

Charfeddine C et al.

The British Journal of Dermatology, 2003

A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda.

Yerebakan O et al.

Clinical and Experimental Dermatology, 2003

Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.

Marrakchi S et al.

The Journal of Investigative Dermatology, 2003

Mutations in the gene encoding SLURP-1 in Mal de Meleda.

Fischer J et al.

Human Molecular Genetics, 2001

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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."