Diagnostic Approaches to Investigate JAK2-Unmutated Erythrocytosis Based on a Single Tertiary Center Experience

ConclusionSomatic and germline mutations were identified in 36.4% and 33.3 % of theJAK2-unmutated group; most variants had unknown clinical significance. Not all genetic causes have been identified; comprehensive diagnostic approaches are crucial for identifying the cause of erythrocytosis.
Source: Molecular Diagnosis and Therapy - Category: Molecular Biology Source Type: research