×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
29449315
2018
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
29290338
2018
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
29673180
2018
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas.
28068329
2017
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient.
28706617
2017
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
27838393
2017
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.
28529006
2017
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
28961165
2017
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.
26840085
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
26635368
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
GeneticVariation
disease
CLINVAR
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
27074763
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
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
1.000
GeneticVariation
disease
CLINVAR
Immortalization of human normal and NF1 neurofibroma Schwann cells.
27617404
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.
27234610
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
GeneticVariation
disease
CLINVAR
Ocular Alterations in a Rare Case of Segmental Neurofibromatosis Type 1 with a Non-Classified Mutational Variant of the NF-1 Gene.
26331193
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
GeneticVariation
disease
CLINVAR
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
26635368
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene.
27999334
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
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
1.000
CausalMutation
disease
CLINVAR
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.
26758488
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China.
26962827
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
GeneticVariation
disease
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
1.000
CausalMutation
disease
CLINVAR
Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.
26458495
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.
27482814
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
CausalMutation
disease
CLINVAR
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
27074763
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
1.000
GeneticVariation
disease
CLINVAR
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
25074460
2015