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Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

Title: Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
Authors: Jackson, AdamAff1, Aff2, IDs41588026025519_cor1; Blakes, Alexander J. M.Aff1, Aff2; Alhaddad, BaderAff3; Henry, Olivia J.Aff4; Delgado-Vega, Angelica M.Aff4, Aff5; Wall, ElizabethAff6; Abdelhadi, OlaAff1, Aff2; Agrawal, ShaktiAff7; Bakur, KhadijahAff3; Blair, EdwardAff8; Brady, Angela F.Aff9, Aff10; Brittain, HelenAff6; Chandler, Kate E.Aff1, Aff2; Clarke, NatashaAff11; Danelli, MirianaAff12; Drinkall, NicholasAff13; Duba, IreneAff4, Aff14; Elmslie, FrancesAff11; Ellingford, JamieAff1, Aff15; Ewans, Lisa J.Aff16, Aff17, Aff18; Fennell, Andrew P.Aff19, Aff20; Gazdagh, GabriellaAff21, Aff22; Heller, Simon P.Aff23; Hammarsjö, AnnaAff4, Aff5; Karrman, KristinaAff24; Kini, UshaAff8; Lesko, NicoleAff4, Aff14; Lindstrand, AnnaAff4, Aff5; Macintosh, RebeccaAff16, Aff18; Mansour, SaharAff11, Aff25; Menzies, LaraAff26, Aff27; Metcalfe, KayAff1, Aff2; Milhench, AlisonAff28; Nashef, LinaAff23; O’Keefe, Raymond T.Aff1; Pacheco, Nadja PekkolaAff4, Aff5; Palmer, Elizabeth E.Aff16, Aff18; Parida, AmitavAff7; Prescott, KatrinaAff29; Redman, MelodyAff29; Renieri, AlessandraAff12, Aff30, Aff31; Fallerini, ChiaraAff12, Aff30, Aff31; Rizzo, Caterina LoAff12; Sachdev, RaniAff16, Aff18; Simons, CasAff32, Aff33; Sisodiya, Sanjay M.Aff34, Aff35; Stewart, HelenAff8; Stödberg, TommyAff36, Aff37; Banos-Pinero, BenitoAff38; Taylan, FulyaAff4; Thomas, Huw B.Aff1; Tinella, FlaviaAff12; Wiafe, SamuelAff39, Aff40, Aff41; Wedell, AnnaAff4, Aff14; Whiffin, NicolaAff42, Aff43, Aff44; Walker, SusanAff15; Rius, RocioAff32, Aff33, Aff45; Chae, Jong HeeAff46, Aff47; Nordgren, AnnAff4, Aff5, Aff48, Aff49; Alkuraya, FowzanAff3, Aff50, Aff51; Lord, JennyAff52; Banka, SiddharthAff1, Aff2, IDs41588026025519_cor2
Source: Nature Genetics. 58(4):798-809
Database: Springer Nature Journals