Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_provenance.
- NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_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." NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_provenance.
- NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_assertion evidence source_evidence_literature NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_provenance.
- NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_assertion SIO_000772 21626672 NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_provenance.
- NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_assertion wasDerivedFrom befree-20140225 NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_provenance.
- NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_assertion wasGeneratedBy ECO_0000203 NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_provenance.