×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
16825284
2006
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Independent NF1 mutations in two large families with spinal neurofibromatosis.
12566521
2003
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
23244495
2012
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
26969325
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
126 novel mutations in Italian patients with neurofibromatosis type 1.
26740943
2015
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas.
12387455
2002
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
15146469
2004
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
17426081
2007
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.
25966637
2015
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
NF1 gene analysis based on DHPLC.
12552569
2003
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
A targeted next-generation sequencing assay detects a high frequency of therapeutically targetable alterations in primary and metastatic breast cancers: implications for clinical practice.
24710307
2014
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
16380919
2005
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
26178382
2015
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
26056819
2015
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Listening to silence and understanding nonsense: exonic mutations that affect splicing.
11967553
2002
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.
17726231
2007
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1.
14569132
2003
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Advances in Molecular Diagnosis of Neurofibromatosis Type 1.
26706011
2015
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
26478990
2015
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
17311297
2007
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
16479075
2006
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Two independent mutations in a family with neurofibromatosis type 1 (NF1).
10076878
1999