×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.
25788518 2015
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Immunohistochemical NF1 analysis does not predict NF1 gene mutation status in pheochromocytoma.
25403449 2015
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.
25293717 2015
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
NF1 Mutations Are Common in Desmoplastic Melanoma.
26076063 2015
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
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
CausalMutation
CLINVAR
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
24789688 2014
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.
24506781 2014
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
24413922 2014
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
23656349 2014
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.
24932921 2014
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
25325900 2014
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
23656349 2014
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.
24694336 2014
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Neurofibromatosis type 1: a single center's experience in Korea.
25324867 2014
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
24803665 2014
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
23047742 2013
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
23758643 2013
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
23913538 2013
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact.
23404336 2013
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A new NF1 variant in a patient with atypical manifestations.
23322702 2013
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
23668869 2013
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
23668869 2013