×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.
19241459 2009
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
10607834 2000
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
CausalMutation
CLINVAR
Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.
11115850 2000
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.
12112660 2002
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders.
9180088 1997
×
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
CausalMutation
CLINVAR
Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.
10726756 2000
×
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
CausalMutation
CLINVAR
Structural analysis of the GAP-related domain from neurofibromin and its implications.
9687500 1998
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
CausalMutation
CLINVAR
Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.
26514327 2016
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke.
16414076 2006
×
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
CausalMutation
CLINVAR
Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.
9463322 1998
×
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
CausalMutation
CLINVAR
Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.
7607663 1995
×
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
CausalMutation
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
CausalMutation
CLINVAR
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
15523642 2004
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Germline and somatic NF1 gene mutations in plexiform neurofibromas.
18484666 2008
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.
25612910 2015
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Quantification of NF1 transcripts reveals novel highly expressed splice variants.
12095621 2002
×
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