@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP58825.RABS9dZChWmJ3sEa_8GqaQjzfTlCANWFhuEJfWAtBYQ2s130_head { this: np:hasAssertion dgn-np:NP58825.RABS9dZChWmJ3sEa_8GqaQjzfTlCANWFhuEJfWAtBYQ2s130_assertion; np:hasProvenance dgn-np:NP58825.RABS9dZChWmJ3sEa_8GqaQjzfTlCANWFhuEJfWAtBYQ2s130_provenance; np:hasPublicationInfo dgn-np:NP58825.RABS9dZChWmJ3sEa_8GqaQjzfTlCANWFhuEJfWAtBYQ2s130_publicationInfo; a np:Nanopublication . dgn-np:NP58825.RABS9dZChWmJ3sEa_8GqaQjzfTlCANWFhuEJfWAtBYQ2s130_assertion a np:Assertion . dgn-np:NP58825.RABS9dZChWmJ3sEa_8GqaQjzfTlCANWFhuEJfWAtBYQ2s130_provenance a np:Provenance . dgn-np:NP58825.RABS9dZChWmJ3sEa_8GqaQjzfTlCANWFhuEJfWAtBYQ2s130_publicationInfo a np:PublicationInfo . } dgn-np:NP58825.RABS9dZChWmJ3sEa_8GqaQjzfTlCANWFhuEJfWAtBYQ2s130_assertion { miriam-gene:7168 a ncit:C16612 . lld:C0878544 a ncit:C7057 . dgn-gda:DGN12c15db066cd1717a08a32af0fffcade sio:SIO_000628 miriam-gene:7168, lld:C0878544; a sio:SIO_001122 . } dgn-np:NP58825.RABS9dZChWmJ3sEa_8GqaQjzfTlCANWFhuEJfWAtBYQ2s130_provenance { dgn-np:NP58825.RABS9dZChWmJ3sEa_8GqaQjzfTlCANWFhuEJfWAtBYQ2s130_assertion dcterms:description "[Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as `benign defects,` associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:12473556; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP58825.RABS9dZChWmJ3sEa_8GqaQjzfTlCANWFhuEJfWAtBYQ2s130_publicationInfo { this: dcterms:created "2014-10-02T12:32:27+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }