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JAK2 p.G571S in B-cell precursor acute lymphoblastic leukemia: a synergizing germline susceptibility

Publication at Second Faculty of Medicine |
2019

Abstract

Germline predispositions are involved in the development of 5% of childhood leukemias, although their contribution is believed to be higher. However, to reveal the full spectrum of pathogenic germline variants, individualized genomic patient analyses, in the context of the respective familial background (trio-calling), are needed.