A relatively common hypomorphic variant in WARS2 causes monogenic disease

Parkinsonism Relat Disord. 2022 Jan:94:129-131. doi: 10.1016/j.parkreldis.2022.01.012. Epub 2022 Jan 19.
No abstract available

Keywords: Common variants; Dystonia; Early-onset Parkinson disease; Hypomorphic variants; Mendelian disease; Mitochondrial disease; Myoclonus; Rare variants; WARS2 c.833T>G; WARS2 c.938A>T; WARS2 p.(Lys313Met); WARS2 p.(Val278Gly).

Publication types

  • Editorial
  • Comment

MeSH terms

  • Exome Sequencing
  • Humans
  • Tryptophan-tRNA Ligase*

Substances

  • Tryptophan-tRNA Ligase