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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table A.

Familial Dysautonomia: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
ELP1 9q31​.3 Elongator complex protein 1 IKBKAP homepage - Leiden Muscular Dystrophy pages ELP1 ELP1

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: Familial Dysautonomia

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