rs104894229
|
|
|
0.900 |
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 |
rs104894229
|
|
|
0.900 |
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 |
rs104894229
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
More than 80% of patients with Costello syndrome share the same underlying mutation, resulting in a G12S amino acid change.
|
18247425 |
2008 |
rs104894229
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series.
|
18039947 |
2008 |
rs104894229
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
rs104894229
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.
|
17412879 |
2007 |
rs104894229
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
rs104894229
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
rs104894229
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
rs104894230
|
|
|
0.840 |
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 |
rs104894230
|
|
|
0.840 |
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 |
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
|
18247425 |
2008 |
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.
|
17412879 |
2007 |
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
rs104894228
|
|
|
0.830 |
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 |
rs104894228
|
|
|
0.830 |
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 |
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
|
18247425 |
2008 |
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |