학술논문
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
Document Type
Journal
Author
Dominik, Natalia; Magri, Stefania; Curro, Riccardo; Abati, Elena; Facchini, Stefano; Corbetta, Marinella; Macpherson, Hannah; Di Bella, Daniela; Sarto, Elisa; Stevanovski, Igor; Chintalaphani, Sanjog R.; Akcimen, Fulya; Manini, Arianna; Vegezzi, Elisa; Quartesan, Ilaria; Montgomery, Kylie-Ann; Pirota, Valentina; Crespan, Emmanuele; Perini, Cecilia; Grupelli, Glenda Paola; Tomaselli, Pedro J.; Marques, Wilson; Shaw, Joseph; Polke, James; Salsano, Ettore; Fenu, Silvia; Pareyson, Davide; Pisciotta, Chiara; Tofaris, George K.; Nemeth, Andrea H.; Ealing, John; Radunovic, Aleksandar; Kearney, Seamus; Kumar, Kishore R.; Vucic, Steve; Kennerson, Marina; Reilly, Mary M.; Houlden, Henry; Deveson, Ira; Tucci, Arianna; Taroni, Franco; Cortese, Andrea; Genomics England Res Consortium
Source
Subject
Language
English
ISSN
14602156