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Dijk, Tessa van; Rudnik-Schöneborn, Sabine; Senderek, Jan; Hajmousa, Ghazaleh; Mei, Hailiang; Dusl, Marina; Aronica, Eleonora; Barth, Peter; Baas, Frank (2017): Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family. In: Brain, Vol. 140, e46
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