Genetic & Genomic MedicineScientific ReportsPeer-reviewed
Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291-1329 CE) indicates the first known case of late-onset Pompe disease
Barbara Iadarola, Denise Lavezzari, Alessandra Modi…·Massimo Delledonne
The paper performs whole-exome sequencing on mummified remains to identify a genetic mutation associated with late-onset Pompe disease in a historical figure.
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