segmental uniparental isodisomy

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Novel Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

In 't Groen, Stijn L M;de Faria, Douglas O S;Iuliano, Alessandro;van den Hout, Johanna M P;Douben, H...

2020 molecular therapy methods & clinical development DOI: 10.1016/j.omtm.2019.... 220 views

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molecular therapy methods & clinical development

ISSN: 2329-0501 319 views

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diagnostics glycogen storage disease type ii pompe disease mosaicism