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

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• 作者

  Judy Savige; Helen Storey; Elizabeth Watson; Jens Michael Hertz; Constantinos Deltas; Alessandra Renieri; Francesca Mari; Pascale Hilbert; Pavlina Plevova; Peter Byers; Agne Cerkauskaite; Martin Gregory; Rimante Cerkauskiene; Danica Galesic Ljubanovic; Francesca Becherucci; Carmela Errichiello; Laura Massella; Valeria Aiello; Rachel Lennon; Louise Hopkinson; Ania Koziell; Adrian Lungu; Hansjorg Martin Rothe; Julia Hoefele; Miriam Zacchia; Tamara Nikuseva Martic; Asheeta Gupta; Albertien van Eerde; Susie Gear; Samuela Landini; Viviana Palazzo; Laith al-Rabadi; Kathleen Claes; Anniek Corveleyn; Evelien Van Hoof; Micheel van Geel; Maggie Williams; Emma Ashton; Hendica Belge; Elisabeth Ars; Agnieszka Bierzynska; Concetta Gangemi; Beata S. Lipska-Ziętkiewicz;

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• 年度 2021
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• 原文格式 PDF
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