rs137854550
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study.
|
29415745 |
2018 |
rs137854550
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?
|
27716896 |
2017 |
rs199474741
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
|
27838393 |
2017 |
rs876657714
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.
|
27862945 |
2017 |
rs1060500242
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience.
|
27305697 |
2016 |
rs1135402857
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
|
26969325 |
2016 |
rs199474746
|
|
A |
0.700 |
GeneticVariation |
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 |
rs768638173
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.
|
27482814 |
2016 |
rs768638173
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo development of gliomas in a child with neurofibromatosis type 1, fragile X and previously normal brain magnetic resonance imaging.
|
26973730 |
2016 |
rs768638173
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.
|
26908603 |
2016 |
rs768638173
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Exploring the genetic basis for clinical variation in neurofibromatosis type 1.
|
27171602 |
2016 |
rs786202782
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.
|
26514327 |
2016 |
rs786204157
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
|
26969325 |
2016 |
rs886041347
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
|
26969325 |
2016 |
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 |
rs1057518792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs1060500242
|
|
T |
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 |
rs1131691079
|
|
A |
0.700 |
GeneticVariation |
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 |
rs1131691079
|
|
G |
0.700 |
GeneticVariation |
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 |
rs1131691100
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.
|
25612910 |
2015 |
rs1131691114
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
126 novel mutations in Italian patients with neurofibromatosis type 1.
|
26740943 |
2015 |
rs1131691122
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1.
|
25480383 |
2015 |
rs1131691123
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
126 novel mutations in Italian patients with neurofibromatosis type 1.
|
26740943 |
2015 |
rs1131691129
|
|
TC |
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 |
rs1135402838
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
126 novel mutations in Italian patients with neurofibromatosis type 1.
|
26740943 |
2015 |