Article
Insights into the role of JAK2-I724T variant in myeloproliferative neoplasms from a unique cohort of New Zealand patients.
Hematology (Amsterdam, Netherlands) - 1 Dec 2024
Puli'uvea Christopher, Immanuel Tracey, Green Taryn N, Tsai Peter, Shepherd Peter R, Kalev-Zylinska Maggie L
Abstract excerpt
OBJECTIVES: This study aimed to compile bioinformatic and experimental information for JAK2 missense variants previously reported in myeloproliferative neoplasms (MPN) and determine if germline JAK2-I724T, recently found to be common in New Zealand Polynesians, associates with MPN. METHODS: For all JAK2 variants found in the literature, gnomAD_exome allele frequencies were extracted and REVEL scores were...
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