Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_provenance.
- NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_assertion description "[A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_provenance.
- NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_assertion evidence source_evidence_literature NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_provenance.
- NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_assertion SIO_000772 11214007 NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_provenance.
- NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_assertion wasDerivedFrom befree-2016 NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_provenance.
- NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_assertion wasGeneratedBy ECO_0000203 NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_provenance.
- befree-2016 importedOn "2016-02-19" NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_provenance.