rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs45517382
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
mTORC1-mediated downregulation of COX2 restrains tumor growth caused by TSC2 deficiency.
|
27078846 |
2016 |
rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs45517382
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Phospholipase D1 is an effector of Rheb in the mTOR pathway.
|
18550814 |
2008 |
rs45517382
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
The TSC1-TSC2 complex is required for proper activation of mTOR complex 2.
|
18411301 |
2008 |
rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
|
15963462 |
2005 |
rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
|
15595939 |
2005 |
rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.
|
15340059 |
2004 |
rs45517382
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Tsc1+ and tsc2+ regulate arginine uptake and metabolism in Schizosaccharomyces pombe.
|
14718525 |
2004 |
rs45517382
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
|
15024740 |
2004 |
rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
|
15024740 |
2004 |
rs45517382
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb.
|
12906785 |
2003 |
rs45517382
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
|
12111193 |
2002 |
rs45517382
|
|
|
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 |
rs45517382
|
|
|
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 |
rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
|
10533067 |
1999 |
rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
|
10205261 |
1999 |
rs45517382
|
|
|
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 |
rs45517382
|
|
|
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 |
rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
|
10570911 |
1999 |
rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
|
9829910 |
1998 |
rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
|
10732801 |
1998 |
rs45517382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
|
9463313 |
1998 |