Condition: Erythrocytosis, Familial, 4
rs137853036 in
EPAS1 gene and
Erythrocytosis, Familial, 4
PMID 22367913 2012 Two new mutations in the HIF2A gene associated with erythrocytosis.
PMID 18184961 2008 A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
PMID 22274579 2012 Clinical utility gene card for: familial erythrocytosis.
PMID 19208626 2009 Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.
PMID 18378852 2008 Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.