Neurofibromatosis 1
|
|
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 |
Neurofibromatosis 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.
|
10980545 |
2000 |
Neurofibromatosis 1
|
|
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 |
Neurofibromatosis 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
Neurofibromatosis 1
|
|
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 |
Neurofibromatosis 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
|
15948193 |
2005 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
|
23758643 |
2013 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
|
1302608 |
1992 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.
|
7981679 |
1994 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
|
9668168 |
1998 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
|
15520408 |
2004 |
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 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
|
9003501 |
1997 |
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 |
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 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
|
9101300 |
1997 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
|
21838856 |
2011 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
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 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
17636453 |
2007 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
|
10607834 |
2000 |
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
|
24413922 |
2014 |