Genomic Characterization of the Inherited Bone Marrow Failure Syndromes
作者： Payal P. Khincha , Sharon A. Savage
DOI: 10.1053/J.SEMINHEMATOL.2013.09.002
关键词: Dyskeratosis congenita 、 Genomics 、 Anemia 、 Genetics 、 Gene 、 Cancer 、 Fanconi anemia 、 DNA repair 、 Germline mutation 、 Biology 、 Hematology
摘要: … was the carrier of the RBM8A SNP. Thus, TAR can be … RBM8A from the other. Notably, the inheritance of two hypomorphic variants in RBM8A also appears to cause TAR.16, 82 RBM8A …
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