DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Tzoulis C, Sztromwasser P, Johansson S, Gjerde IO, Knappskog P, Bindoff LA.
PNKP mutations identified by whole-exome sequencing in a Norwegian patient with sporadic ataxia and edema.
Cerebellum 2017;
16 (01) 272-275
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