GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

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Veröffentlicht in:Molecular genetics and metabolism reports 2023, Vol.36, p.100997-100997
Hauptverfasser: Malekkou, Anna, Theodosiou, Athina, Alexandrou, Angelos, Papaevripidou, Ioannis, Sismani, Carolina, Jacobs, Edwin H, Ruijter, George J G, Anastasiadou, Violetta, Ourani, Sofia, Athanasiou, Emilia, Drousiotou, Anthi, Grafakou, Olga, Petrou, Petros P
Format: Report
Sprache:eng
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ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2023.100997