Table A.

Mandibulofacial Dysostosis with Microcephaly: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
EFTUD2 17q21​.31 116 kDa U5 small nuclear ribonucleoprotein component EFTUD2 @ LOVD EFTUD2 EFTUD2

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: Mandibulofacial Dysostosis with Microcephaly

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