Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.L281F
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ECM1

NM_004425.4:p.L281F

Associated Papers

Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene.

Luo XY et al.

The Journal of Dermatology, 2016

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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."