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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Title: SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Authors: Nashabat, MarwanAff1; Nabavizadeh, NasrinsadatAff1; Saraçoğlu, Hilal PırılAff1; Sarıbaş, BurakAff1; Avcı, ŞahinAff2; Börklü, EsraAff2; Beillard, EmmanuelAff3; Yılmaz, ElanurAff1; Uygur, Seyide EcesuAff1; Kayhan, Cavit KeremAff4, Aff5; Bosco, LucaAff6, Aff7; Eren, Zeynep BengiAff1; Steindl, KatharinaAff8; Richter, Manuela FriederikeAff9; Bademci, GuneyAff10; Rauch, AnitaAff8, Aff11, Aff12; Fattahi, ZohrehAff13, Aff14; Valentino, Maria LuciaAff15, Aff16; Connolly, Anne M.Aff17; Bahr, AngelaAff8; Viola, LauraAff18; Bergmann, Anke KatharinaAff19; Rocha, Maria EugeniaAff20; Peart, LeShonAff10; Castro-Rojas, Derly LisethAff21; Bültmann, EvaAff22; Khan, SulimanAff20; Giarrana, Miriam LilianaAff23; Teleanu, Raluca IoanaAff24, Aff25; Gonzalez, Joanna MichelleAff10; Pini, AntonellaAff26; Schädlich, Ines SophieAff27; Vill, KatharinaAff28, Aff29; Brugger, MelanieAff29; Zuchner, StephanAff10, Aff30; Pinto, AndreiaAff20; Donkervoort, SandraAff31; Bivona, Stephanie AnnAff10; Riza, AncaAff32, Aff33; Streata, IoanaAff32, Aff33; Gläser, DieterAff34; Baquero-Montoya, CarolinaAff35; Garcia-Restrepo, NataliaAff36; Kotzaeridou, UraniaAff37; Brunet, TheresaAff28, Aff29; Epure, Diana AnamariaAff24; Bertoli-Avella, AidaAff20; Kariminejad, ArianaAff14; Tekin, MustafaAff10, Aff30; von Hardenberg, SandraAff19; Bönnemann, Carsten G.Aff31; Stettner, Georg M.Aff38; Zanni, GinevraAff6; Kayserili, HülyaAff2, Aff39; Oflazer, Zehra PirayeAff40; Escande-Beillard, NathalieAff1, Aff41, IDs41467024459335_cor57; Zuchner, StephanAff30; Tekin, MustafaAff30
Source: Nature Communications. 15(1)
Database: Springer Nature Journals