rs199474742
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
T
0.800
CausalMutation
CLINVAR
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
26056819
2015
rs199474742
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
24893135
2014
rs199474742
×
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
rs199474742
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
T
0.800
CausalMutation
CLINVAR
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
23668869
2013
rs199474742
×
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
rs199474742
×
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
rs199474742
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
G
0.800
GeneticVariation
CLINVAR
LOVD v.2.0: the next generation in gene variant databases.
21520333
2011
rs199474742
×
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
rs199474742
×
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
rs199474742
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
T
0.800
CausalMutation
CLINVAR
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
16944272
2007
rs199474742
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
G
0.800
GeneticVariation
CLINVAR
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
16380919
2005
rs199474742
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
G
0.800
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
rs199474742
×
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
rs199474742
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
15520408
2004
rs199474742
×
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
rs199474742
×
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
rs199474742
×
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
rs199474742
×
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
rs199474742
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.800
GeneticVariation
UNIPROT
NF1 gene analysis based on DHPLC.
12552569
2003
rs199474742
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
T
0.800
CausalMutation
CLINVAR
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
11857752
2002
rs199474742
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
G
0.800
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
rs199474742
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
T
0.800
CausalMutation
CLINVAR
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
10862084
2000
rs199474742
×
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
rs199474742
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
T
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
rs199474742
×
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