rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
|
22903760 |
2013 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
|
22867869 |
2013 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
|
15963462 |
2005 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
|
15595939 |
2005 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.
|
15340059 |
2004 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
|
15024740 |
2004 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.
|
12271141 |
2002 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
|
11112665 |
2001 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.
|
11520734 |
2001 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
|
10607950 |
2000 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.
|
10069705 |
1999 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
|
10735580 |
1999 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
|
10205261 |
1999 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
|
10570911 |
1999 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
|
10533067 |
1999 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
|
9829910 |
1998 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
|
10732801 |
1998 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
|
10732801 |
1998 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
|
9463313 |
1998 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
|
9302281 |
1997 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
|
8824881 |
1996 |
rs45517393
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
|
8824881 |
1996 |