Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_provenance.
- NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_assertion description "[Four were missense mutations; eight defects (insertions, deletions, and splice mutations) were predicted to truncate cardiac myosin-binding protein C. The clinical expression of either missense or truncation mutations was similar to that observed for other genetic causes of hypertrophic cardiomyopathy, but the age at onset of the disease differed markedly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_provenance.
- NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_assertion evidence source_evidence_literature NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_provenance.
- NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_assertion SIO_000772 9562578 NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_provenance.
- NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_assertion wasDerivedFrom befree-2016 NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_provenance.
- NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_assertion wasGeneratedBy ECO_0000203 NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_provenance.
- befree-2016 importedOn "2016-02-19" NP1393873.RAdQVlcYa3qiqXeQfFyAxK0vU_mSPtJssbivU_CKgAe0A130_provenance.