Reference
Bras, Jose, et al. “Mutations in PNKP Cause Recessive Ataxia With Oculomotor Apraxia Type 4”. The American Journal of Human Genetics, vol. 96, no. 3, Feb. 2015, pp. 474–479, https://doi.org/10.1016/j.ajhg.2015.01.005.
PubMed Reference Number (PMID)
25728773