PET117 deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- PET117 / PET117 Mitochondrial Translational Regulator
  20p11.23
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial translational regulator PET117
Disease group(s)
- 7.4.2 Disorders of nuclear encoded complex IV assembly factors