Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.P169T
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ECM1

NM_004425.4:p.P169T

Associated Papers

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

Rey LK et al.

Molecular Syndromology, 2016

Identification of a novel splicing mutation of ECM1 in a rare lipoid proteinosis family.

Gao D et al.

The Journal of Dermatology, 2013

Microwave treatment ameliorates beaded eyelid papules caused by lipoid proteinosis.

Zhang B et al.

Pediatric Dermatology, 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."