Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.P169_G170ins0
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ECM1

NM_004425.4:p.P169_G170ins0

Associated Papers

Lipoid Proteinosis presenting as beaded papules of the eyelid: report of three cases.

Wei Z et al.

Bmc Ophthalmology, 2021

Identification of a novel three-nucleotide duplication in ECM1 in Chinese siblings affected with lipoid proteinosis.

Zhu T et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

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

Gao D et al.

Molecular Medicine Reports, 2018

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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."