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1 Ergebnisse
1
Biallelic truncating variants in PACSIN3 cause childhood-on..:
Distelmaier, Felix
;
Sezer, Abdullah
;
Helm, Christina
...
Brain. , 2024
Link:
https://doi.org/10.1093/brain/awae099
RT Journal T1
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_brain_awae099&Exemplar=1&LAN=DE A1 Distelmaier, Felix A1 Sezer, Abdullah A1 Helm, Christina A1 Waldmüller, Stephan A1 Seibt, Annette A1 Gangfuß, Andrea A1 Kölbel, Heike A1 Schara-Schmidt, Ulrike A1 Yuksel, Deniz A1 Talim, Beril A1 Mayatepek, Ertan A1 Nikolin, Stefan A1 Weis, Joachim A1 Roos, Andreas A1 Haack, Tobias B PB Oxford University Press (OUP) YR 2024 SN 0006-8950 SN 1460-2156 JF Brain LK http://dx.doi.org/https://doi.org/10.1093/brain/awae099 DO https://doi.org/10.1093/brain/awae099 SF ELIB - SuUB Bremen
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