Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.Q32*
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ECM1

NM_004425.4:p.Q32*

Associated Papers

Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene.

Gao D et al.

Molecular Medicine Reports, 2018

A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.

Rey LK et al.

Molecular Syndromology, 2016

Lipoid proteinosis presenting with an unusual nonsense Q32X mutation in exon 2 of the extracellular matrix protein 1 gene.

Chelvan HT et al.

The Australasian Journal of Dermatology, 2012

Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.

Nasir M et al.

Diagnostic Pathology, 2011

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.

Chan I et al.

Experimental Dermatology, 2007

Molecular basis of lipoid proteinosis in two Indian siblings.

Chan I et al.

The Journal of Dermatology, 2004

Molecular basis of lipoid proteinosis in a Libyan family.

Chan I et al.

Clinical and Experimental Dermatology, 2003

Clinical and molecular abnormalities in lipoid proteinosis.

Desmet S et al.

European Journal of Dermatology : Ejd, 0

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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."