rs199474760
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
|
21838856 |
2011 |
rs199474760
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
rs199474760
|
|
Neurofibromatosis 1
|
G |
0.800 |
CausalMutation
|
CLINVAR |
A highly sensitive genetic protocol to detect NF1 mutations.
|
21354044 |
2011 |
rs199474760
|
|
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
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
17636453 |
2007 |
rs199474760
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NF1 gene analysis based on DHPLC.
|
12552569 |
2003 |
rs199474760
|
|
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
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
|
23758643 |
2013 |
rs199474760
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.
|
7981679 |
1994 |
rs199474760
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.
|
8081387 |
1994 |
rs199474760
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
|
9668168 |
1998 |
rs199474760
|
|
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
|
|
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
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
rs199474760
|
|
Neurofibromatosis 1
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
|
16944272 |
2007 |
rs199474760
|
|
Neurofibromatosis 1
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
|
18041031 |
2007 |
rs199474760
|
|
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
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
|
1302608 |
1992 |
rs199474760
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
rs199474760
|
|
Neurofibromatosis 1
|
|
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 |
rs199474760
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
|
9003501 |
1997 |
rs199474760
|
|
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
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.
|
2114220 |
1990 |
rs199474760
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs199474760
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
|
12746402 |
2003 |