DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Scholz C, Golas MM, Weber RG. , et al.
Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.
Clin Genet 2018;
94 (01) 185-186
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