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Germline genetic factors in the pathogenesis of myeloproliferative neoplasms

Archive ouverte | Bellanné-Chantelot, Christine | CCSD

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Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms

Archive ouverte | Pegliasco, Jean | CCSD

International audience. Mutations in the calreticulin ( CALR ) gene are seen in about 30% of essential thrombocythemia and primary myelofibrosis patients. To address the contribution of the human CALR mutants to the...

An inherited gain‐of‐function risk allele in EPOR predisposes to familial JAK2 V617F myeloproliferative neoplasms

Archive ouverte | Rabadan Moraes, Graciela | CCSD

International audience. Summary Myeloproliferative neoplasms (MPN) are mainly sporadic but inherited variants have been associated with higher risk development. Here, we identified an EPOR variant ( EPOR P488S ) in ...

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