Bergsma, Atze J ; in 't Groen, Stijn L.M ; Catalano, Fabio... Bergsma , A J , in 't Groen , S L M , Catalano , F , Yamanaka , M , Takahashi , S , Okumiya , T , van der Ploeg , A T & Pijnappel , W W M P 2021 , ' A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease ' , European Journal of Human Genetics , vol. 29 , no. 3 , pp. 422-433 . https://doi.org/10.1038/s41431-020-00751-3.
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2021