Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.A288T
Back to variants list

NPHS1

NM_004646.4:p.A288T

Associated Papers

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.

Tory K et al.

Nature Genetics, 2014

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

Santín S et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2011

Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects.

Weber S et al.

Transplantation, 2005

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

Weber S et al.

Kidney International, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."