rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
|
27322474 |
2016 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
|
24413922 |
2014 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
|
23758643 |
2013 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
|
22807134 |
2012 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
|
23244495 |
2012 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
|
21838856 |
2011 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
|
22155606 |
2011 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
17636453 |
2007 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).
|
16786508 |
2006 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
|
16380919 |
2005 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
|
15520408 |
2004 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
|
15523642 |
2004 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
|
15060124 |
2004 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.
|
14722917 |
2004 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NF1 gene analysis based on DHPLC.
|
12552569 |
2003 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
|
12746402 |
2003 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
|
11857752 |
2002 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
|
10607834 |
2000 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
|
9668168 |
1998 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
|
9101300 |
1997 |
rs137854550
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
|
9150739 |
1997 |