|
rs45507199
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
|
27406250 |
2016 |
|
rs45507199
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
|
22867869 |
2013 |
|
rs45507199
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
|
21309039 |
2011 |
|
rs45507199
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
|
20165957 |
2010 |
|
rs45507199
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A reliable cell-based assay for testing unclassified TSC2 gene variants.
|
18854862 |
2009 |
|
rs45507199
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
|
16981987 |
2006 |
|
rs45507199
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism.
|
16237225 |
2005 |
|
rs45507199
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
|
16114042 |
2005 |
|
rs45507199
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
|
10732801 |
1998 |
|
rs137854218
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs45517423
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We used these assays to compare the effects of 9 different TSC2 variants (S132C, F143L, A196T, C244R, Y598H, I820del, T993M, L1511H and R1772C) identified in individuals with symptoms of TSC from 4 different families.
|
18302728 |
2008 |