×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
126 novel mutations in Italian patients with neurofibromatosis type 1.
26740943 2015
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
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
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
A highly sensitive genetic protocol to detect NF1 mutations.
21354044 2011
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
CLINVAR
A highly sensitive genetic protocol to detect NF1 mutations.
21354044 2011
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
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
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.
21278392 2011
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.
22965773 2012
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
26478990 2015
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.
27234610 2016
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
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
Neurofibromatosis 1
1.000
GeneticVariation
CLINVAR
A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor.
25877329 2015
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.
19120036 2009
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
A total of 320 unrelated NF1 patients were screened for mutations in the GRD-encoding region of the NF1 gene.
9003501 1997
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
CLINVAR
A total of 320 unrelated NF1 patients were screened for mutations in the GRD-encoding region of the NF1 gene.
9003501 1997
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
CausalMutation
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
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1.
22190595 2012
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
29673180 2018
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
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
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
An histologically atypical NF-type 1 patient with a new pathogenic mutation.
22222937 2012
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.
10336779 1998
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesis.
8437860 1993
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neurofibromatosis 1
1.000
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
Neurofibromatosis 1
1.000
CausalMutation
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
Neurofibromatosis 1
1.000
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
Neurofibromatosis 1
1.000
CausalMutation
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