Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP550444.RAWeBpawY5U2QV5RSKrlACB3x_qGCIRkfZGTr1hDd4hBM130_assertion> ?p ?o ?g. }
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- NP550444.RAWeBpawY5U2QV5RSKrlACB3x_qGCIRkfZGTr1hDd4hBM130_assertion type Assertion NP550444.RAWeBpawY5U2QV5RSKrlACB3x_qGCIRkfZGTr1hDd4hBM130_head.
- NP550444.RAWeBpawY5U2QV5RSKrlACB3x_qGCIRkfZGTr1hDd4hBM130_assertion description "[SBDS/7q11 gene mutations underlie the congenital Shwachman Diamond syndrome (SDS), characterized by bone marrow failure and high risk of haematological malignancies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP550444.RAWeBpawY5U2QV5RSKrlACB3x_qGCIRkfZGTr1hDd4hBM130_provenance.
- NP550444.RAWeBpawY5U2QV5RSKrlACB3x_qGCIRkfZGTr1hDd4hBM130_assertion evidence source_evidence_literature NP550444.RAWeBpawY5U2QV5RSKrlACB3x_qGCIRkfZGTr1hDd4hBM130_provenance.
- NP550444.RAWeBpawY5U2QV5RSKrlACB3x_qGCIRkfZGTr1hDd4hBM130_assertion SIO_000772 19016724 NP550444.RAWeBpawY5U2QV5RSKrlACB3x_qGCIRkfZGTr1hDd4hBM130_provenance.
- NP550444.RAWeBpawY5U2QV5RSKrlACB3x_qGCIRkfZGTr1hDd4hBM130_assertion wasDerivedFrom befree-20140225 NP550444.RAWeBpawY5U2QV5RSKrlACB3x_qGCIRkfZGTr1hDd4hBM130_provenance.
- NP550444.RAWeBpawY5U2QV5RSKrlACB3x_qGCIRkfZGTr1hDd4hBM130_assertion wasGeneratedBy ECO_0000203 NP550444.RAWeBpawY5U2QV5RSKrlACB3x_qGCIRkfZGTr1hDd4hBM130_provenance.