Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma - Scholz, Christian; Golas, M. M.; Weber, R. G.; Hartmann, C.; Lehmann, U.; Sahm, Felix; Schmidt, G.; Auber, B.; Sturm, M.; Schlegelberger, B.; Illig, T.; Steinemann, D.; et al. (Clinical genetics, 2018)
Gesehen am 22.04.2020