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Microdeletions in this region result in reduced IMMP2L methylation, with partial compensatory effects observed in mothers of affected individuals, which may explain why some deletion carriers do not show clinical symptoms (Vasilyev et al., 2021)

however, the three-fold increase in ROS levels most a substantial change compared to what might be considered baseline or typical fluctuations in many other cell types or developmental stages

Sep 2012;87(9):841-842

Clinicopathologic characteristics of myeloproliferative neoplasms with JAK2 exon 12 mutation

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