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Original Research

Published on 19 Dec 2023

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

in Nephrology

  • Dana Thomasová
  • Michaela Zelinová
  • Malgorzata Libik
  • Jan Geryk
  • Pavel Votýpka
  • Silvie Rajnochová Bloudíčková
  • Karel Krejčí
  • Jana Reiterová
  • Eva Jančová
  • Jana Machová
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
Frontiers in Medicine
doi 10.3389/fmed.2023.1320054
  • 1,486 views
  • 1 citation