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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

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Description scientific article published on 01 June 2021
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author: Helen Griffin  Rita Horvath  Leslie Matalonga  Patrick F. Chinnery  Katherine Schon  Ana Töpf 

Publication date June 1, 2021
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