×
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
126 novel mutations in Italian patients with neurofibromatosis type 1.
26740943 2015
×
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
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
A highly sensitive genetic protocol to detect NF1 mutations.
21354044 2011
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
A highly sensitive genetic protocol to detect NF1 mutations.
21354044 2011
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.
2114220 1990
×
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
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
26478990 2015
×
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
×
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
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
Advances in Molecular Diagnosis of Neurofibromatosis Type 1.
26706011 2015
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
17160901 2007
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
An histologically atypical NF-type 1 patient with a new pathogenic mutation.
22222937 2012
×
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
CausalMutation
CLINVAR
Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.
27862945 2017
×
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
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
GeneticVariation
CLINVAR
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.
25966637 2015
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
22807134 2012
×
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
GeneticVariation
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
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.
8544190 1995
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.
7981679 1994