rs121917758
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Patients with the HRAS mutation c.173C>T (p.T58I) might go undiagnosed because of the milder phenotype compared with other mutations causing Costello syndrome.
|
26888048 |
2016 |
rs121917758
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
rs121917758
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
|
23321623 |
2013 |
rs121917758
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.
|
22488832 |
2012 |
rs121917758
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
|
20949621 |
2011 |
rs121917758
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.
|
20112233 |
2010 |
rs121917758
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
|
19995790 |
2010 |
rs121917758
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
rs121917758
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
|
18247425 |
2008 |
rs121917758
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
|
18247425 |
2008 |
rs121917758
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
rs121917758
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
rs121917758
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
rs121917758
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Germline KRAS mutations cause Noonan syndrome.
|
16474405 |
2006 |
rs121917758
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.
|
16921267 |
2006 |
rs121917758
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |