|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A familial childhood-onset relapsing nephrotic syndrome.
|
17290294 |
2007 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
|
22565185 |
2012 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
|
21415313 |
2011 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
|
11726550 |
2001 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
|
11726550 |
2001 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
|
11854170 |
2002 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
|
11854170 |
2002 |
|
Nephrosis, congenital
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we have characterized a novel nephrin sequence variant, A419T, which is expressed along with C623F in a patient presenting with CNS.
|
30212551 |
2018 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
|
20798252 |
2010 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
|
20798252 |
2010 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
|
11317351 |
2001 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
|
22732337 |
2012 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
|
18614772 |
2008 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
|
19812541 |
2009 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
|
20172850 |
2010 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
|
20172850 |
2010 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
|
20172850 |
2010 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.
|
15338398 |
2004 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.
|
15338398 |
2004 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.
|
10652016 |
2000 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
|
26560236 |
2016 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.
|
9660941 |
1998 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
|
25804400 |
2015 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
|
9915943 |
1999 |
|
Finnish congenital nephrotic syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
|
9915943 |
1999 |