Article
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients
16 Nov 2017
Abstract excerpt
patients, mild pancytopenia with myelodysplasia. This study broadens the molecular and clinical portrait of IBMF syndromes and sheds light on newly recognized disease entities. Using a high-throughput sequencing screen to implement precision medicine at diagnosis can improve patient management and family counseling.
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