×
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
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
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
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
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
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
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
Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE).
8069310
1994
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
11857752
2002
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).
21280148
2011
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma.
17514731
2008