rs137853036
|
Entrez Id: |
2034 |
Gene Symbol: |
EPAS1 |
EPAS1
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two new mutations in the HIF2A gene associated with erythrocytosis.
|
22367913 |
2012 |
rs137853036
|
Entrez Id: |
2034 |
Gene Symbol: |
EPAS1 |
EPAS1
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: familial erythrocytosis.
|
22274579 |
2012 |
rs137853037
|
Entrez Id: |
2034 |
Gene Symbol: |
EPAS1 |
EPAS1
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: familial erythrocytosis.
|
22274579 |
2012 |
rs137853037
|
Entrez Id: |
2034 |
Gene Symbol: |
EPAS1 |
EPAS1
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two new mutations in the HIF2A gene associated with erythrocytosis.
|
22367913 |
2012 |
rs137853036
|
Entrez Id: |
2034 |
Gene Symbol: |
EPAS1 |
EPAS1
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.
|
19208626 |
2009 |
rs137853037
|
Entrez Id: |
2034 |
Gene Symbol: |
EPAS1 |
EPAS1
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.
|
19208626 |
2009 |
rs137853036
|
Entrez Id: |
2034 |
Gene Symbol: |
EPAS1 |
EPAS1
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
|
18184961 |
2008 |
rs137853036
|
Entrez Id: |
2034 |
Gene Symbol: |
EPAS1 |
EPAS1
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
|
18378852 |
2008 |
rs137853037
|
Entrez Id: |
2034 |
Gene Symbol: |
EPAS1 |
EPAS1
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
|
18184961 |
2008 |
rs137853037
|
Entrez Id: |
2034 |
Gene Symbol: |
EPAS1 |
EPAS1
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
|
18378852 |
2008 |
rs137853036
|
Entrez Id: |
2034 |
Gene Symbol: |
EPAS1 |
EPAS1
|
Erythrocytosis, Familial, 4
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137853036
|
Entrez Id: |
2034 |
Gene Symbol: |
EPAS1 |
EPAS1
|
Erythrocytosis, Familial, 4
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137853037
|
Entrez Id: |
2034 |
Gene Symbol: |
EPAS1 |
EPAS1
|
Erythrocytosis, Familial, 4
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|