Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.W193*
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ECM1

NM_004425.4:p.W193*

Associated Papers

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families.

Li M et al.

Pediatric Dermatology, 2023

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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."