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1 Ergebnisse
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GAA variants associated with reduced enzymatic activity but..:
Malekkou, Anna
;
Theodosiou, Athina
;
Alexandrou, Angelos
...
Molecular Genetics and Metabolism Reports. 36 (2023) - p. 100997 , 2023
Link:
https://doi.org/10.1016/j.ymgmr.2023.100997
RT Journal T1
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ymgmr.2023.100997&Exemplar=1&LAN=DE A1 Malekkou, Anna A1 Theodosiou, Athina A1 Alexandrou, Angelos A1 Papaevripidou, Ioannis A1 Sismani, Carolina A1 Jacobs, Edwin H. A1 Ruijter, George J.G. A1 Anastasiadou, Violetta A1 Ourani, Sofia A1 Athanasiou, Emilia A1 Drousiotou, Anthi A1 Grafakou, Olga A1 Petrou, Petros P. PB Elsevier BV YR 2023 SN 2214-4269 JF Molecular Genetics and Metabolism Reports VO 36 SP 100997 LK http://dx.doi.org/https://doi.org/10.1016/j.ymgmr.2023.100997 DO https://doi.org/10.1016/j.ymgmr.2023.100997 SF ELIB - SuUB Bremen
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