Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.P284L
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NPHS1

NM_004646.4:p.P284L

Associated Papers

NPHS2 mutations account for only 15% of nephrotic syndrome cases.

Guaragna MS et al.

Bmc Medical Genetics, 2015

NPHS2 variation in focal and segmental glomerulosclerosis.

Tonna SJ et al.

Bmc Nephrology, 2008

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

Weber S et al.

Kidney International, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."