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Dijk, T. van; Rudnik-Schoneborn, S.; Senderek, J.; Hajmousa, G.; Mei, H.L.; Dusl, M.; ... ; Baas, F.
2017
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family
Article / Letter to editor
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