rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.810
GeneticVariation
UNIPROT
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
21838856
2011
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.810
GeneticVariation
UNIPROT
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
9668168
1998
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.810
GeneticVariation
UNIPROT
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
15146469
2004
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.810
GeneticVariation
UNIPROT
NF1 gene analysis based on DHPLC.
12552569
2003
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.810
GeneticVariation
UNIPROT
NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
12746402
2003
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
A
0.810
GeneticVariation
CLINVAR
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.810
GeneticVariation
UNIPROT
Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
1302608
1992
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.810
GeneticVariation
UNIPROT
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
9003501
1997
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.810
GeneticVariation
UNIPROT
Six novel mutations in the neurofibromatosis type 1 (NF1) gene.
9298829
1997
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.810
GeneticVariation
UNIPROT
Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.
7981679
1994
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.810
GeneticVariation
UNIPROT
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
24413922
2014
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.810
GeneticVariation
UNIPROT
Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
9101300
1997
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.810
GeneticVariation
UNIPROT
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
23758643
2013
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
C
0.810
CausalMutation
CLINVAR
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
18546366
2008
rs199474750
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
0.810
GeneticVariation
UNIPROT
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
15520408
2004