rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
|
9643284 |
1998 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.
|
8230593 |
1993 |
rs121434261
|
|
|
0.810 |
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 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.
|
20445339 |
2010 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Preimplantation diagnosis for neurofibromatosis.
|
12709270 |
2003 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Eleven novel mutations in the NF2 tumour suppressor gene.
|
7759081 |
1995 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Detection of novel NF2 mutations by an RNA mismatch cleavage method.
|
10790209 |
2000 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutational analysis of patients with neurofibromatosis 2.
|
7913580 |
1994 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We identified a missense mutation (T185-->C, Phe62-->Ser) in the neurofibromatosis 2 (NF2) gene in a family with mild and severe NF2 phenotypes.
|
8757035 |
1996 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins.
|
10669747 |
2000 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities.
|
10090912 |
1999 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas.
|
8698340 |
1996 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Diagnostic issues in a family with late onset type 2 neurofibromatosis.
|
7666400 |
1995 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.
|
8566958 |
1996 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.
|
8081368 |
1994 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs121434261
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus.
|
20178741 |
2010 |
rs121434261
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|