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Acute myeloid leukemia (AML) is a hematopoietic malignancy with a dismal outcome in the majority of cases. A detailed understanding of the genetic alterations and gene expression changes that contribute to its pathogenesis is important to improve prognostication, disease monitoring, and therapy. The...
ORGANISM(S): Homo sapiens 
Exome sequencing of peripheral blood from 4 individuals of a family with familial colorectal cancer type X
Sequencing of colorectal tumors and normal tissue using Ion AmpliSeq Cancer Hotspot Panel V2
Familial colorectal cancer type X (FCCTX) is characterized by clinical features of hereditary non-polyposis colorectal cancer with a yet undefined genetic background. Here, using an integrative genomics strategy, we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred with FCCTX. ...
Data Access Committee EGAC00001000072
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