Extension of the Pompe mutation database by linking disease-associated variants to clinical severity

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Description scientific article published on 29 July 2019
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author: Atze J Bergsma  Marian A Kroos  Marianne Hoogeveen-Westerveld  Nadine A van der Beek  Pim Pijnappel  Ans van der Ploeg 

Publication date July 29, 2019
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