Coexistence of multiple gene variants in some patients with erythrocytoses

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Characterization of a Newly Discovered Non‐Coding Variant in the <i>EPO</i> Gene Identified in Two Unrelated Italian Pedigrees With Erythrocytosis2026
2. 2From variant detection to interpretation in idiopathic erythrocytosis: A structured approach applied to a clinical cohort2026
3. 3Real-World Impact of Deep Targeted Sequencing on Erythrocytosis and Thrombocytosis Diagnosis: A Reference Centre Experience2024
4. 4Next-generation sequencing panel for hereditary erythrocytosis identifies genomic variants in over half of adults with otherwise unexplained erythrocytosis2025
5. 5Additive associations of variants at the expression quantitative trait loci of <i>TFR2</i> and <i>EPO</i> in a linkage disequilibrium block with hypochromic erythropoiesis2025