Table A.

Lipoid Proteinosis: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
ECM1 1q21​.2 Extracellular matrix protein 1 ECM1 database ECM1 ECM1

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

From: Lipoid Proteinosis

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