×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
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
GeneticVariation
CLINVAR
Limited contribution of interchromosomal gene conversion to NF1 gene mutation.
11476066 2001
×
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
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
25074460 2015
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.
17103458 2006
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis.
16005615 2005
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Splicing in action: assessing disease causing sequence changes.
16199547 2005
×
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
GeneticVariation
CLINVAR
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
16944272 2007
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
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
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
GeneticVariation
CLINVAR
Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP.
12787671 2003
×
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
GeneticVariation
CLINVAR
Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome.
22664660 2012
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours.
19142971 2009
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
16835897 2006
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors.
14517963 2003
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
21838856 2011
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Low U1 snRNP dependence at the NF1 exon 29 donor splice site.
19292874 2009
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
10712197 2000
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
18546366 2008
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
9150739 1997
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
22155606 2011
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
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
GeneticVariation
CLINVAR
Identification of neurofibromin mutants that exhibit allele specificity or increased Ras affinity resulting in suppression of activated ras alleles.
8628317 1996