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“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay | 121 |
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“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay | 8 | 2 | 6 | 15 | 1 | 3 | 0 |
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2019_Jahic_etal.pdf | 140 |