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（2023）
关键词
end-stage renal disease,exome sequencing,focal segmental glomerulosclerosis,nephrotic syndrome,NPHS2,proteinuria
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