rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
G
0.800
CausalMutation
CLINVAR
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
27322474
2016
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
G
0.800
CausalMutation
CLINVAR
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
27074763
2016
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
24893135
2014
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
24413922
2014
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
23758643
2013
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
21838856
2011
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
G
0.800
CausalMutation
CLINVAR
A highly sensitive genetic protocol to detect NF1 mutations.
21354044
2011
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
20065170
2010
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
17636453
2007
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
G
0.800
CausalMutation
CLINVAR
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
16944272
2007
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
G
0.800
CausalMutation
CLINVAR
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
18041031
2007
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
G
0.800
CausalMutation
CLINVAR
Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.
17726231
2007
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
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
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
15523642
2004
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
15146469
2004
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
15604628
2004
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
15520408
2004
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
NF1 gene analysis based on DHPLC.
12552569
2003
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
12746402
2003
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
G
0.800
CausalMutation
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
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
10607834
2000
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
9668168
1998
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
9003501
1997
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
9150739
1997
rs199474760
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
9101300
1997