Table A.

Waardenburg Syndrome Type I: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
PAX3 2q36​.1 Paired box protein Pax-3 Deafness Variation Database - PAX3
PAX3 gene database
PAX3 PAX3

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: Waardenburg Syndrome Type I

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