rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
BEFREE |
Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach.
|
29804243 |
2018 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
|
24413922 |
2014 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
|
23758643 |
2013 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
|
21838856 |
2011 |
rs199474750
|
|
Neurofibromatosis 1
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
|
18546366 |
2008 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
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 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
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 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
|
15520408 |
2004 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
NF1 gene analysis based on DHPLC.
|
12552569 |
2003 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
|
12746402 |
2003 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
|
10607834 |
2000 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
|
9668168 |
1998 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
|
9003501 |
1997 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Six novel mutations in the neurofibromatosis type 1 (NF1) gene.
|
9298829 |
1997 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
|
9150739 |
1997 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
|
9101300 |
1997 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
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 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
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 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.
|
7981679 |
1994 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
|
1302608 |
1992 |
rs199474750
|
|
Neurofibromatosis 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.
|
2114220 |
1990 |
rs199474750
|
|
Neurofibromatosis 1
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
|
|
|
rs137854550
|
|
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 |
rs137854550
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |