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“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay | 91 |
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“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay | 1 | 14 | 1 | 1 | 4 | 10 | 5 |
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2019_Jahic_etal.pdf | 131 |