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Variants in SART3 Cause a Spliceosomopathy Characterised by Failure of Testis Development and Neuronal Defects

Katie L. Ayers,Stefanie Eggers,Ben N. Rollo,Katherine R. Smith,Nadia M. Davidson,Nicole A. Siddall,Liang Zhao,Josephine Bowles,Karin Weiss,Ginevra Zanni,Lydie Burglen,Shay Ben-Shachar,Jenny Rosensaft,Annick Raas-Rothschild,Anne Jørgensen,Ralf B. Schittenhelm,Cheng Huang,Gorjana Robevska,Jocelyn van den Bergen,Franca Casagranda,Justyna Cyza,Svenja Pachernegg,David K. Wright,Melanie Bahlo,Alicia Oshlack,Terrence J. O’Brien,Patrick Kwan,Peter Koopman,Gary R. Hime,Nadine Girard,Chen Hoffmann, Yuval Shilon,Amnon Zung,Enrico Bertini,Mathieu Milh,Bochra Ben Rhouma,Neila Belguith,Anu Bashamboo,Kenneth McElreavey,Ehud Banne,Naomi Weintrob,Bruria BenZeev,Andrew H. Sinclair

NATURE COMMUNICATIONS（2023）

Cited 6|Views11
Key words
Disease genetics,Disease model,Genetics research,Gonadal disorders,Neurodevelopmental disorders,Science,Humanities and Social Sciences,multidisciplinary
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