Threonyl-tRNA synthetase 1 deficiency

Synonym(s)
- Nonphotosensitive trichothiodystrophy type 7
Type

Disease
External link(s)
- IEMbase
Gene
- TARS1 / threonyl-tRNA synthetase 1
  5p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Threonyl-tRNA synthetase 1, cytoplasmic
Disease group(s)
- 16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases