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Variants in SART3 cause a spliceosomopathy characterised by..:
Ayers, Katie
;
Eggers, Stefanie
;
Rollo, Ben
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-023-39040-0. , 2023
Link:
https://hal.science/hal-04150348
RT Journal T1
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
UL https://suche.suub.uni-bremen.de/peid=base-ftunivparis:oai:HAL:hal-04150348v1&Exemplar=1&LAN=DE A1 Ayers, Katie A1 Eggers, Stefanie A1 Rollo, Ben A1 Smith, Katherine A1 Davidson, Nadia A1 Siddall, Nicole A1 Zhao, Liang A1 Bowles, Josephine A1 Weiss, Karin A1 Zanni, Ginevra A1 Burglen, Lydie A1 Ben-Shachar, Shay A1 Rosensaft, Jenny A1 Raas-Rothschild, Annick A1 Jørgensen, Anne A1 Schittenhelm, Ralf A1 Huang, Cheng A1 Robevska, Gorjana A1 van den Bergen, Jocelyn A1 Casagranda, Franca A1 Cyza, Justyna A1 Pachernegg, Svenja A1 Wright, David A1 Bahlo, Melanie A1 Oshlack, Alicia A1 O'Brien, Terrence A1 Kwan, Patrick A1 Koopman, Peter A1 Hime, Gary A1 Girard, Nadine A1 Hoffmann, Chen A1 Shilon, Yuval A1 Zung, Amnon A1 Bertini, Enrico A1 Milh, Mathieu A1 Ben Rhouma, Bochra A1 Belguith, Neila A1 Bashamboo, Anu A1 Mcelreavey, Ken A1 Banne, Ehud A1 Weintrob, Naomi A1 Benzeev, Bruria A1 Sinclair, Andrew PB HAL CCSD; Nature Publishing Group YR 2023 K1 MESH: Male K1 MESH: Humans K1 MESH: Testis K1 MESH: Intellectual Disability K1 MESH: Induced Pluripotent Stem Cells K1 MESH: RNA-Binding Proteins K1 MESH: Gonadal Dysgenesis K1 MESH: Antigens K1 Neoplasm K1 [SDV]Life Sciences [q-bio] JF info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-023-39040-0 LK http://dx.doi.org/https://hal.science/hal-04150348 DO https://hal.science/hal-04150348 SF ELIB - SuUB Bremen
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