Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
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Published:2017-01-16
Issue:3
Volume:49
Page:457-464
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Lardelli Rea M, Schaffer Ashleigh E, Eggens Veerle R C, Zaki Maha S, Grainger Stephanie, Sathe Shashank, Van Nostrand Eric L, Schlachetzki Zinayida, Rosti Basak, Akizu Naiara, Scott Eric, Silhavy Jennifer L, Heckman Laura Dean, Rosti Rasim Ozgur, Dikoglu Esra, Gregor Anne, Guemez-Gamboa Alicia, Musaev Damir, Mande Rohit, Widjaja Ari, Shaw Tim L, Markmiller Sebastian, Marin-Valencia Isaac, Davies Justin H, de Meirleir Linda, Kayserili Hulya, Altunoglu Umut, Freckmann Mary Louise, Warwick Linda, Chitayat David, Blaser Susan, Çağlayan Ahmet Okay, Bilguvar Kaya, Per Huseyin, Fagerberg Christina, Christesen Henrik T, Kibaek Maria, Aldinger Kimberly A, Manchester David, Matsumoto Naomichi, Muramatsu Kazuhiro, Saitsu Hirotomo, Shiina Masaaki, Ogata Kazuhiro, Foulds Nicola, Dobyns William B, Chi Neil C, Traver David, Spaccini Luigina, Bova Stefania Maria, Gabriel Stacey B, Gunel Murat, Valente Enza Maria, Nassogne Marie-Cecile, Bennett Eric J, Yeo Gene W, Baas FrankORCID, Lykke-Andersen Jens, Gleeson Joseph G
Publisher
Springer Science and Business Media LLC
Reference39 articles.
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