rs199474742
|
|
Neurofibromatosis 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
|
26056819 |
2015 |
rs199474742
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
rs199474742
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
|
24413922 |
2014 |
rs199474742
|
|
Neurofibromatosis 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
|
23668869 |
2013 |
rs199474742
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
|
23758643 |
2013 |
rs199474742
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
|
21838856 |
2011 |
rs199474742
|
|
Neurofibromatosis 1
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
rs199474742
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
rs199474742
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
17636453 |
2007 |
rs199474742
|
|
Neurofibromatosis 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
|
16944272 |
2007 |
rs199474742
|
|
Neurofibromatosis 1
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
|
16380919 |
2005 |
rs199474742
|
|
Neurofibromatosis 1
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
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 |
rs199474742
|
|
Neurofibromatosis 1
|
|
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 |
rs199474742
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
|
15520408 |
2004 |
rs199474742
|
|
Neurofibromatosis 1
|
|
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 |
rs199474742
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
rs199474742
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs199474742
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
|
12746402 |
2003 |
rs199474742
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NF1 gene analysis based on DHPLC.
|
12552569 |
2003 |
rs199474742
|
|
Neurofibromatosis 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
|
11857752 |
2002 |
rs199474742
|
|
Neurofibromatosis 1
|
G |
0.800 |
GeneticVariation
|
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 |
rs199474742
|
|
Neurofibromatosis 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
|
10862084 |
2000 |
rs199474742
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
|
10607834 |
2000 |
rs199474742
|
|
Neurofibromatosis 1
|
T |
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 |
rs199474742
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
|
9668168 |
1998 |