|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
|
24413922 |
2014 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
|
23758643 |
2013 |
|
rs199474762
|
|
Neurofibromatosis 1
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
A highly sensitive genetic protocol to detect NF1 mutations.
|
21354044 |
2011 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
|
21838856 |
2011 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
17636453 |
2007 |
|
rs199474762
|
|
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 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
|
15520408 |
2004 |
|
rs199474762
|
|
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 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
|
12746402 |
2003 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NF1 gene analysis based on DHPLC.
|
12552569 |
2003 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
|
10607834 |
2000 |
|
rs199474762
|
|
Neurofibromatosis 1
|
C |
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 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
|
9668168 |
1998 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Six novel mutations in the neurofibromatosis type 1 (NF1) gene.
|
9298829 |
1997 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
|
9003501 |
1997 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
|
9101300 |
1997 |
|
rs199474762
|
|
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 |
|
rs199474762
|
|
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 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.
|
7981679 |
1994 |
|
rs199474762
|
|
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 |
|
rs199474762
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
|
1302608 |
1992 |