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27. Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. Sakamoto M; Iwama K; Sekiguchi F; Mashimo H; Kumada S; Ishigaki K; Okamoto N; Behnam M; Ghadami M; Koshimizu E; Miyatake S; Mitsuhashi S; Mizuguchi T; Takata A; Saitsu H; Miyake N; Matsumoto N J Hum Genet; 2021 Apr; 66(4):401-407. PubMed ID: 33040083 [TBL] [Abstract][Full Text] [Related]
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