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Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Title:	Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
Authors:	Savige, Judy^{Aff1, IDs41431021008581_cor1}; Storey, Helen^Aff2; Watson, Elizabeth^Aff3; Hertz, Jens Michael^Aff4; Deltas, Constantinos^Aff5; Renieri, Alessandra^Aff6; Mari, Francesca^Aff7; Hilbert, Pascale^Aff7; Plevova, Pavlina^Aff8; Byers, Peter^Aff9; Cerkauskaite, Agne^Aff10; Gregory, Martin^Aff11; Cerkauskiene, Rimante^Aff12; Ljubanovic, Danica Galesic^Aff13; Becherucci, Francesca^Aff14; Errichiello, Carmela^Aff14; Massella, Laura^Aff15; Aiello, Valeria^Aff16; Lennon, Rachel^Aff17; Hopkinson, Louise^Aff17; Koziell, Ania^Aff18; Lungu, Adrian^Aff19; Rothe, Hansjorg Martin^Aff20; Hoefele, Julia^Aff21; Zacchia, Miriam^Aff22; Martic, Tamara Nikuseva^Aff23; Gupta, Asheeta^Aff24; van Eerde, Albertien^Aff25; Gear, Susie^Aff26; Landini, Samuela^Aff27; Palazzo, Viviana^Aff28; al-Rabadi, Laith^Aff29; Claes, Kathleen^Aff30; Corveleyn, Anniek^Aff31; Van Hoof, Evelien^Aff31; van Geel, Micheel^Aff32; Williams, Maggie^Aff33; Ashton, Emma^Aff34; Belge, Hendica^Aff35; Ars, Elisabeth^Aff36; Bierzynska, Agnieszka^Aff37; Gangemi, Concetta^Aff38; Lipska-Ziętkiewicz, Beata S.^Aff39
Source:	European Journal of Human Genetics. 29(8):1186-1197
Database:	Springer Nature Journals