×
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
Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels.
7904209 1993
×
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
Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.
8081387 1994
×
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
×
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
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.
7655472 1995
×
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
Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.
8664912 1996
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31.
8845843 1996
×
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
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.
8829638 1996
×
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
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
The Ras-RasGAP complex: structural basis for GTPase activation and its loss in oncogenic Ras mutants.
9219684 1997
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
9101300 1997
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
9003501 1997
×
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
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
Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.
9783703 1998
×
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
CausalMutation
CLINVAR
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
9668168 1998
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Two independent mutations in a family with neurofibromatosis type 1 (NF1).
10076878 1999
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Two independent mutations in a family with neurofibromatosis type 1 (NF1).
10076878 1999
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.
10543400 1999