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EFTUD2 - elongation factor Tu GTP binding domain containing 2
- Synonym(s) : 116 kDa U5 small nuclear ribonucleoprotein component, SNRNP116, Snrp116, Snu114, U5-116KD, U5 snRNP specific protein, 116 kD
- Previous symbols and names : _
- Type : gene with protein product
- Chromosomal location : 17q21.31
- OMIM: 603892
- HGNC: 30858
- UniProtKB: Q15029
- Genatlas: EFTUD2
- Ensembl: ENSG00000108883
- IUPHAR-DB: -
- Reactome: Q15029
- LOVD: EFTUD2
Diseases list
- Disease-causing germline mutation(s) in Mandibulofacial dysostosis-microcephaly syndrome
ORPHA:79113 
: AssessedAdditional information
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