Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_assertion> ?p ?o ?g. }
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- NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_assertion type Assertion NP308907.RAN0pn-gbjtgXHpZFVnhCIDWYQHsTvoFkZY5tKmKbCPcs130_head.
- 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.