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1 Ergebnisse
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Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth..:
Beatrice Berti
;
Giovanna Longo
;
Francesco Mari
...
https://doi.org/10.1186/s12920-021-01001-1. , 2021
Link:
https://doi.org/10.1186/s12920-021-01001-1
RT Journal T1
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:762fb8ebeadd421d96de715d7615d7df&Exemplar=1&LAN=DE A1 Beatrice Berti A1 Giovanna Longo A1 Francesco Mari A1 Stefano Doccini A1 Ilaria Piccolo A1 Maria Alice Donati A1 Francesca Moro A1 Renzo Guerrini A1 Filippo M. Santorelli A1 Vittoria Petruzzella PB BMC YR 2021 K1 MTMR5/SBF1 K1 Charcot-Marie-Tooth 4B3 K1 Mitochondrial diseases K1 Next-generation sequencing K1 Case report K1 Internal medicine K1 RC31-1245 K1 Genetics K1 QH426-470 JF https://doi.org/10.1186/s12920-021-01001-1 LK http://dx.doi.org/https://doi.org/10.1186/s12920-021-01001-1 DO https://doi.org/10.1186/s12920-021-01001-1 SF ELIB - SuUB Bremen
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