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Gert C. Scheper et al.
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HC Dobryn et al.
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Lsm proteins are required for normal processing and stability of ribosomal RNAs
J Kufel et al.
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N Tomasevic et al.
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GR Abecasis et al.
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A common core RNP structure shared between the small nucleoar box C/D RNPs and the spliceosomal U4 snRNP
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CELL (2000)