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1 Ergebnisse
1
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and V..:
Steel, Dora
;
Zech, Michael
;
Zhao, Chen
...
Annals of Neurology. 88 (2020) 5 - p. 867-877 , 2020
Link:
https://doi.org/10.1002/ana.25879
RT Journal T1
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ana.25879&Exemplar=1&LAN=DE A1 Steel, Dora A1 Zech, Michael A1 Zhao, Chen A1 Barwick, Katy E. S. A1 Burke, Derek A1 Demailly, Diane A1 Kumar, Kishore R. A1 Zorzi, Giovanna A1 Nardocci, Nardo A1 Kaiyrzhanov, Rauan A1 Wagner, Matias A1 Iuso, Arcangela A1 Berutti, Riccardo A1 Škorvánek, Matej A1 Necpál, Ján A1 Davis, Ryan A1 Wiethoff, Sarah A1 Mankad, Kshitij A1 Sudhakar, Sniya A1 Ferrini, Arianna A1 Sharma, Suvasini A1 Kamsteeg, Erik‐Jan A1 Tijssen, Marina A. A1 Verschuuren, Corien A1 van Egmond, Martje E. A1 Flowers, Joanna M. A1 McEntagart, Meriel A1 Tucci, Arianna A1 Coubes, Philippe A1 Bustos, Bernabe I. PB Wiley YR 2020 SN 0364-5134 SN 1531-8249 JF Annals of Neurology VO 88 IS 5 SP 867 OP 877 LK http://dx.doi.org/https://doi.org/10.1002/ana.25879 DO https://doi.org/10.1002/ana.25879 SF ELIB - SuUB Bremen
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