rs199474742
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
rs199474742
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs199474742
|
|
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
|
11857752 |
2002 |
rs199474742
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
|
16944272 |
2007 |
rs199474742
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Identification of neurofibromin mutants that exhibit allele specificity or increased Ras affinity resulting in suppression of activated ras alleles.
|
8628317 |
1996 |
rs199474742
|
|
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
|
23668869 |
2013 |
rs199474742
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
|
26056819 |
2015 |
rs199474742
|
|
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
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
|
16380919 |
2005 |
rs199474742
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.
|
7655472 |
1995 |
rs199474742
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
|
9668168 |
1998 |
rs199474742
|
|
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.
|
7981679 |
1994 |
rs199474742
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
|
21838856 |
2011 |
rs199474742
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
17636453 |
2007 |
rs199474742
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
|
12746402 |
2003 |
rs199474742
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
|
9150739 |
1997 |
rs199474742
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
|
9003501 |
1997 |
rs199474742
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.
|
8834249 |
1996 |
rs199474742
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
rs199474742
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
|
1302608 |
1992 |
rs199474742
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
|
23758643 |
2013 |