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Biallelic expansion of an intronic repeat in RFC1 is a comm..:
Cortese, Andrea
;
Simone, Roberto
;
Sullivan, Roisin
...
Nature Genetics. 51 (2019) 4 - p. 649-658 , 2019
Link:
https://doi.org/10.1038/s41588-019-0372-4
RT Journal T1
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41588-019-0372-4&Exemplar=1&LAN=DE A1 Cortese, Andrea A1 Simone, Roberto A1 Sullivan, Roisin A1 Vandrovcova, Jana A1 Tariq, Huma A1 Yau, Wai Yan A1 Humphrey, Jack A1 Jaunmuktane, Zane A1 Sivakumar, Prasanth A1 Polke, James A1 Ilyas, Muhammad A1 Tribollet, Eloise A1 Tomaselli, Pedro J. A1 Devigili, Grazia A1 Callegari, Ilaria A1 Versino, Maurizio A1 Salpietro, Vincenzo A1 Efthymiou, Stephanie A1 Kaski, Diego A1 Wood, Nick W. A1 Andrade, Nadja S. A1 Buglo, Elena A1 Rebelo, Adriana A1 Rossor, Alexander M. A1 Bronstein, Adolfo A1 Fratta, Pietro A1 Marques, Wilson J. A1 Züchner, Stephan A1 Reilly, Mary M. A1 Houlden, Henry PB Springer Science and Business Media LLC YR 2019 SN 1061-4036 SN 1546-1718 JF Nature Genetics VO 51 IS 4 SP 649 OP 658 LK http://dx.doi.org/https://doi.org/10.1038/s41588-019-0372-4 DO https://doi.org/10.1038/s41588-019-0372-4 SF ELIB - SuUB Bremen
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