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has major subject area list
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Cerebellar Diseases; Exonucleases; Mutation; Nuclear Proteins; RNA, Small Nuclear
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information resource reference
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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017 Mar; 49(3):457-464.
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label
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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
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