rs917257652
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs878853925
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs780872661
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs766974263
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities.
|
10090912 |
1999 |
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
|
9643284 |
1998 |
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Preimplantation diagnosis for neurofibromatosis.
|
12709270 |
2003 |
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Eleven novel mutations in the NF2 tumour suppressor gene.
|
7759081 |
1995 |
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins.
|
10669747 |
2000 |
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.
|
20445339 |
2010 |
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.
|
8230593 |
1993 |
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.
|
8081368 |
1994 |
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus.
|
20178741 |
2010 |
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas.
|
8698340 |
1996 |
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.
|
8566958 |
1996 |
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Diagnostic issues in a family with late onset type 2 neurofibromatosis.
|
7666400 |
1995 |
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Detection of novel NF2 mutations by an RNA mismatch cleavage method.
|
10790209 |
2000 |
rs764441073
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutational analysis of patients with neurofibromatosis 2.
|
7913580 |
1994 |
rs74315505
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs74315504
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutational analysis of patients with neurofibromatosis 2.
|
7913580 |
1994 |
rs74315504
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[Phenotype-genotype study in 154 French NF2 mutation carriers].
|
18033041 |
2007 |
rs74315504
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.
|
18766994 |
2008 |
rs74315504
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Exon scanning for mutation of the NF2 gene in schwannomas.
|
8012353 |
1994 |
rs74315504
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas.
|
12566519 |
2003 |
rs74315504
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
|
26066488 |
2015 |