rs1057516197
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057517848
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057517967
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
|
25074460 |
2015 |
rs1057518326
|
|
C |
0.700 |
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 |
rs1057518326
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
|
23913538 |
2013 |
rs1057518326
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518360
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518807
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
|
23913538 |
2013 |
rs1057518807
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.
|
10543400 |
1999 |
rs1057518807
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
|
27074763 |
2016 |
rs1057518807
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.
|
8837715 |
1996 |
rs1057518884
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518904
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
rs1057518904
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
|
16944272 |
2007 |
rs1057518904
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.
|
7981679 |
1994 |
rs1057518904
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact.
|
23404336 |
2013 |
rs1057518904
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
|
18546366 |
2008 |
rs1057518904
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
|
26478990 |
2015 |
rs1057519369
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519370
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519370
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057521098
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
|
18546366 |
2008 |
rs1057523533
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
|
27074763 |
2016 |
rs1057523533
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060500242
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|