Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
scientific article published on 16 January 2017
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author: Rasim Özgür Rosti, Frank Baas, Hülya Kayserili, Kaya Bilgüvar, Enza Maria Valente, Stephanie Grainger, Alicia Guemez-gamboa, Ashleigh Schaffer, Jens Lykke-Andersen, Henrik Thybo Christesen, Maha Zaki, Hirotomo Saitsu, Kazuhiro Muramatsu, Christina Fagerberg, Justin H Davies, Stacey Gabriel, Joseph G Gleeson, William B. Dobyns, Jennifer L Silhavy, Damir Musaev, Umut Altunoğlu, Naiara Akizu, Esra Dikoglu, Basak Rosti, Murat Günel, David Chitayat, Luigina Spaccini, Anne Gregor, Eric Van Nostrand, Kimberly A Aldinger, Naomichi Matsumoto
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