An inherited gain‐of‐function risk allele in EPOR predisposes to familial JAK2V617F myeloproliferative neoplasms
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Haematology"
DOI: 10.1111/bjh.18165
Abstract: Myeloproliferative neoplasms (MPN) are mainly sporadic but inherited variants have been associated with higher risk development. Here, we identified an EPOR variant (EPORP488S) in a large family diagnosed with JAK2V617F‐positive polycythaemia vera (PV) or essential… read more here.
Keywords: inherited gain; risk allele; gain function; function risk ... See more keywords