rs199474760
|
|
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 |
rs199474760
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
|
27074763 |
2016 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
|
24413922 |
2014 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
|
23758643 |
2013 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
|
21838856 |
2011 |
rs199474760
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
A highly sensitive genetic protocol to detect NF1 mutations.
|
21354044 |
2011 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
17636453 |
2007 |
rs199474760
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
|
16944272 |
2007 |
rs199474760
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
|
18041031 |
2007 |
rs199474760
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.
|
17726231 |
2007 |
rs199474760
|
|
|
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 |
rs199474760
|
|
|
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 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
|
15520408 |
2004 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NF1 gene analysis based on DHPLC.
|
12552569 |
2003 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
|
12746402 |
2003 |
rs199474760
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
|
10712197 |
2000 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
|
10607834 |
2000 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
|
9668168 |
1998 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
|
9003501 |
1997 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
|
9150739 |
1997 |
rs199474760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
|
9101300 |
1997 |