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Items: 3

Select item 57697411.

The RNA exosome and RNA exosome-linked disease

Derrick J. Morton, Emily G. Kuiper, Stephanie K. Jones, Sara W. Leung, Anita H. Corbett, Milo B. Fasken

RNA. 2018 Feb; 24(2): 127–142. doi: 10.1261/rna.064626.117

PMCID:: PMC5769741

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Select item 99908222.

Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia

Puneeth H. Somashekar, Parneet Kaur, Joshi Stephen, Vishal Singh Guleria, Rajagopal Kadavigere, Katta Mohan Girisha, Stephanie Bielas, Priyanka Upadhyai, Anju Shukla

Clin Genet. Author manuscript; available in PMC 2023 Mar 7.

Published in final edited form as: Clin Genet. 2021 Apr; 99(4): 594–600. Published online 2021 Jan 28. doi: 10.1111/cge.13928

PMCID:: PMC9990822

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Select item 41027693.

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Veronika Boczonadi, Juliane S. Müller, Angela Pyle, Jennifer Munkley, Talya Dor, Jade Quartararo, Ileana Ferrero, Veronika Karcagi, Michele Giunta, Tuomo Polvikoski, Daniel Birchall, Agota Princzinger, Yuval Cinnamon, Susanne Lützkendorf, Henriett Piko, Mojgan Reza, Laura Florez, Mauro Santibanez-Koref, Helen Griffin, Markus Schuelke, Orly Elpeleg, Luba Kalaydjieva, Hanns Lochmüller, David J. Elliott, Patrick F. Chinnery, Shimon Edvardson, Rita Horvath

Nat Commun. 2014 Jul 3; 5: 4287. Published online 2014 Jul 3. doi: 10.1038/ncomms5287