|
rs74315342
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.
|
29382718 |
2018 |
|
rs74315342
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
|
25349199 |
2015 |
|
rs74315342
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NPHS2 mutations account for only 15% of nephrotic syndrome cases.
|
26420286 |
2015 |
|
rs74315342
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.
|
25852895 |
2014 |
|
rs74315342
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.
|
24500309 |
2014 |
|
rs74315342
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
|
24227627 |
2014 |
|
rs74315342
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
|
24856380 |
2014 |
|
rs74315342
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
|
24227627 |
2014 |
|
rs74315342
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.
|
24072147 |
2013 |
|
rs74315342
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment.
|
23913389 |
2013 |
|
rs74315342
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.
|
23800802 |
2013 |
|
rs74315342
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
|
23242530 |
2013 |
|
rs74315342
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
|
23242530 |
2013 |
|
rs74315342
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
|
22565185 |
2012 |
|
rs74315342
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.
|
22578956 |
2012 |
|
rs74315342
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.
|
20947785 |
2011 |
|
rs74315342
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
|
20798252 |
2010 |
|
rs74315342
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.
|
19406966 |
2009 |
|
rs74315342
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.
|
17899208 |
2007 |
|
rs74315342
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
|
15253708 |
2004 |
|
rs74315342
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
|
14978175 |
2004 |
|
rs74315342
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
|
15253708 |
2004 |
|
rs74315342
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Intracellular mislocalization of mutant podocin and correction by chemical chaperones.
|
12649741 |
2003 |
|
rs74315342
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.
|
12464671 |
2002 |
|
rs74315342
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
|
11854170 |
2002 |