Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_provenance.
- befree-2016 importedOn "2016-02-19" NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_provenance.
- NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_assertion wasGeneratedBy ECO_0000203 NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_provenance.
- NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_assertion wasDerivedFrom befree-2016 NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_provenance.
- NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_assertion SIO_000772 21626672 NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_provenance.
- NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_assertion evidence source_evidence_literature NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_provenance.
- NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_assertion description "[We describe a newborn female with a de novo interstitial deletion of chromosome 21q21.1-22.12 including the RUNX1 gene who had developmental delay, multiple congenital anomalies, tetralogy of Fallot, anemia, and chronic thromobocytopenia requiring frequent platelet transfusions from birth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_provenance.