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TITLE: Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
AUTHORS: Anna C Thomas; Hywel Williams; Nuria Seto Salvia; Chiara Bacchelli; Dagan Jenkins; Mary O'Sullivan; Konstantinos Mengrelis; Miho Ishida; Louise Ocaka; Estelle Chanudet; Chela James; Francesco Lescai; Glenn Anderson; Deborah Morrogh; Mina Ryten; Andrew J Duncan; Yun Jin Pai; Jorge M Saraiva; Fabiana Ramos; Bernadette Farren; Dawn Saunders; Bertrand Vernay; Paul Gissen; Anna Straatmaan Iwanowska; Frank Baas; Nicholas W Wood; Joshua Hersheson; Henry Houlden; Jane Hurst; Richard Scott; Maria Bitner Glindzicz; Gudrun E Moore; Sergio B Sousa; Philip Stanier; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 95, ISSUE: 5

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