Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.G92Splc
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NPHS1

NM_004646.4:p.G92Splc

Associated Papers

New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.

Chen Y et al.

Molecular Genetics & Genomic Medicine, 2023

37248651 (PubMed )
Supplement: MGG3-11-e2163-s001.xls › Table_S1

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

Heeringa SF et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008

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