Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.E85fs
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NPHS2

NM_014625.4:p.E85fs

Associated Papers

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.

Thomasová D et al.

Frontiers in Medicine, 2023

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