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Digenic inheritance of STUB1 variants and TBP polyglutamine..:
Magri, Stefania
;
Nanetti, Lorenzo
;
Gellera, Cinzia
...
Genetics in Medicine. 24 (2022) 1 - p. 29-40 , 2022
Link:
https://doi.org/10.1016/j.gim.2021.08.003
RT Journal T1
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2021.08.003&Exemplar=1&LAN=DE A1 Magri, Stefania A1 Nanetti, Lorenzo A1 Gellera, Cinzia A1 Sarto, Elisa A1 Rizzo, Elena A1 Mongelli, Alessia A1 Ricci, Benedetta A1 Fancellu, Roberto A1 Sambati, Luisa A1 Cortelli, Pietro A1 Brusco, Alfredo A1 Bruzzone, Maria Grazia A1 Mariotti, Caterina A1 Di Bella, Daniela A1 Taroni, Franco PB Elsevier BV YR 2022 SN 1098-3600 JF Genetics in Medicine VO 24 IS 1 SP 29 OP 40 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2021.08.003 DO https://doi.org/10.1016/j.gim.2021.08.003 SF ELIB - SuUB Bremen
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