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representativeness
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MUDr. Martina Maxiánová
Academic staff at First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
1 publication
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The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood
2023 |
Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové, First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
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