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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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Description scientific article published on 16 January 2017
Author/s

author: Damir Musaev  Naiara Akizu  Basak Rosti  Esra Dikoglu  Frank Baas  Christina Fagerberg  William B. Dobyns  Kimberly A Aldinger  Murat Günel  Jens Lykke-Andersen  Anne Gregor  Stacey Gabriel  Joseph G Gleeson  Ashleigh Schaffer  Eric Van Nostrand  Hirotomo Saitsu  Kazuhiro Muramatsu  Justin H Davies  Luigina Spaccini  Umut Altunoglu  David Chitayat  Enza Maria Valente  Rasim Ozgur Rosti  Alicia Guemez-gamboa  Jennifer L Silhavy  Henrik Thybo Christesen  Maha Zaki  Stephanie Grainger  Kaya Bilguvar  Hulya Kayserili 

Publication date January 16, 2017
Language English
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