|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Psychopathological features in Noonan syndrome.
|
29037749 |
2018 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
|
30266093 |
2018 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome.
|
28378436 |
2017 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
|
26686981 |
2016 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
RASopathy Gene Mutations in Melanoma.
|
27236105 |
2016 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder.
|
26918529 |
2016 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
|
26214590 |
2015 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and Molecular Findings of Tunisian Patients with RASopathies.
|
25337068 |
2014 |
|
rs397517154
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
|
22465605 |
2012 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.
|
21274610 |
2011 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
|
21387466 |
2011 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
|
21784453 |
2011 |
|
rs397517154
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
RASopathies: Clinical Diagnosis in the First Year of Life.
|
22190897 |
2011 |
|
rs397517154
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
|
21387466 |
2011 |
|
rs397517154
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
|
21340158 |
2010 |
|
rs397517154
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
|
18854871 |
2009 |
|
rs397517154
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
|
19352411 |
2009 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
|
19352411 |
2009 |
|
rs397517154
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
|
17586837 |
2007 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
|
17586837 |
2007 |
|
rs397517154
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
|
17143282 |
2007 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
|
17143285 |
2007 |
|
rs397517154
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
|
17143282 |
2007 |