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Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Title:	Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
Authors:	Greene, Daniel^{Aff1, Aff2}; De Wispelaere, Koenraad^{Aff2, Aff3}; Lees, Jon^Aff4; Codina-Solà, Marta^{Aff5, Aff6}; Jensson, Brynjar O.^Aff7; Hales, Emma^{Aff8, Aff9}; Katrinecz, Andrea^{Aff8, Aff9}; Nieto Molina, Esther^Aff10; Pascoal, Sonia^{Aff8, Aff9}; Pfundt, Rolph^Aff11; Schot, Rachel^Aff12; Sevilla Porras, Marta^{Aff13, Aff14}; Sleutels, Frank^Aff12; Valenzuela, Irene^{Aff5, Aff6}; Wijngaard, Robin^Aff15; Arroyo Carrera, Ignacio^Aff16; Atton, Giles^Aff17; Casas-Alba, Didac^Aff18; Donnelly, Deirdre^Aff19; Duat Rodríguez, Anna^{Aff13, Aff20}; Fernández Garoz, Bárbara^Aff20; Foulds, Nicola^Aff17; García-Navas Núñez, Deyanira^Aff16; González Alguacil, Elena^{Aff13, Aff20}; Jarvis, Joanna^Aff21; Kant, Sarina G.^Aff12; Madrigal Bajo, Irene^{Aff13, Aff22}; Martinez-Monseny, Antonio F.^Aff18; McKee, Shane^Aff19; Ortiz Cabrera, Nelmar Valentina^{Aff13, Aff20}; Rodríguez-Revenga Bodi, Laia^{Aff13, Aff22}; Sariego Jamardo, Andrea^Aff23; Stefansson, Kari^{Aff7, Aff24}; Sulem, Patrick^Aff7; Suri, Mohnish^Aff25; Van Karnebeek, Clara^Aff26; Vasudevan, Pradeep^Aff27; Vega Pajares, Ana Isabel^Aff28; Carracedo, Ángel^{Aff13, Aff29, Aff30}; Engelen, Marc^Aff31; Lapunzina, Pablo^{Aff13, Aff32}; Morgan, Natasha P.^{Aff8, Aff9}; Morte, Beatriz^Aff13; Rump, Patrick^Aff33; Stirrups, Kathy^{Aff8, Aff9}; Tizzano, Eduardo F.^{Aff5, Aff6}; Barakat, Tahsin Stefan^Aff12; O’Donoghue, Michael^Aff34; Pérez-Jurado, Luis Alberto^{Aff13, Aff14, Aff35}; Freson, Kathleen^Aff3; Mumford, Andrew D.^{Aff4, Aff36}; Turro, Ernest^{Aff1, Aff2, Aff37, Aff38, IDs41588025021595_cor1}
Source:	Nature Genetics. 57(6):1367-1373
Database:	Springer Nature Journals