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Article

A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.

Nature genetics - 1 Apr 2009

Kilpivaara Outi, Mukherjee Semanti, Schram Alison M, Wadleigh Martha, Mullally Ann, Ebert Benjamin L, Bass Adam, Marubayashi Sachie, Heguy Adriana, Garcia-Manero Guillermo, Kantarjian Hagop, Offit Kenneth, Stone Richard M, Gilliland D Gary, Klein Robert J, Levine Ross L

Abstract excerpt

Polycythemia vera, essential thrombocythemia and primary myelofibrosis are myeloproliferative neoplasms (MPN) characterized by multilineage clonal hematopoiesis. Given that the identical somatic activating mutation in the JAK2 tyrosine kinase gene (JAK2(V617F)) is observed in most individuals with polycythemia vera, essential thrombocythemia and primary myelofibrosis, there likely are additional genetic events...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19287384
DOI: 10.1038/ng.342
PMCID: PMC3676425

Genes

JAK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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