rs137854566
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
|
29290338 |
2018 |
rs137854566
|
|
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 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
|
24413922 |
2014 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
|
23758643 |
2013 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
|
21838856 |
2011 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
17636453 |
2007 |
rs137854566
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
|
15948193 |
2005 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
|
15520408 |
2004 |
rs137854566
|
|
|
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 |
rs137854566
|
|
G |
0.800 |
CausalMutation |
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 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs137854566
|
|
|
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 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
|
12746402 |
2003 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NF1 gene analysis based on DHPLC.
|
12552569 |
2003 |
rs137854566
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.
|
10980545 |
2000 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
|
10607834 |
2000 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
|
9668168 |
1998 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
|
9003501 |
1997 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
|
9150739 |
1997 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
|
9101300 |
1997 |
rs137854566
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Six novel mutations in the neurofibromatosis type 1 (NF1) gene.
|
9298829 |
1997 |
rs137854566
|
|
|
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 |