@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:NP653316.RAembhsml0L17g0Rs5mS5zaleOzKfQq4s7hYznBzDJlTI130_head { this: np:hasAssertion dgn-np:NP653316.RAembhsml0L17g0Rs5mS5zaleOzKfQq4s7hYznBzDJlTI130_assertion; np:hasProvenance dgn-np:NP653316.RAembhsml0L17g0Rs5mS5zaleOzKfQq4s7hYznBzDJlTI130_provenance; np:hasPublicationInfo dgn-np:NP653316.RAembhsml0L17g0Rs5mS5zaleOzKfQq4s7hYznBzDJlTI130_publicationInfo; a np:Nanopublication . dgn-np:NP653316.RAembhsml0L17g0Rs5mS5zaleOzKfQq4s7hYznBzDJlTI130_assertion a np:Assertion . dgn-np:NP653316.RAembhsml0L17g0Rs5mS5zaleOzKfQq4s7hYznBzDJlTI130_provenance a np:Provenance . dgn-np:NP653316.RAembhsml0L17g0Rs5mS5zaleOzKfQq4s7hYznBzDJlTI130_publicationInfo a np:PublicationInfo . } dgn-np:NP653316.RAembhsml0L17g0Rs5mS5zaleOzKfQq4s7hYznBzDJlTI130_assertion { miriam-gene:3133 a ncit:C16612 . lld:C0007194 a ncit:C7057 . dgn-gda:DGNaf5eec606c817c0905b740ab91fc1a94 sio:SIO_000628 miriam-gene:3133, lld:C0007194; a sio:SIO_001121 . } dgn-np:NP653316.RAembhsml0L17g0Rs5mS5zaleOzKfQq4s7hYznBzDJlTI130_provenance { dgn-np:NP653316.RAembhsml0L17g0Rs5mS5zaleOzKfQq4s7hYznBzDJlTI130_assertion dcterms:description "[In this study we analyzed the genotype and phenotype of individuals from two unrelated families with HCM in which the affected individuals have the same missense mutation in exon 13 (G1208A) of the coding sequence for beta MHC.]. 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:7934006; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP653316.RAembhsml0L17g0Rs5mS5zaleOzKfQq4s7hYznBzDJlTI130_publicationInfo { this: dcterms:created "2014-10-02T12:38:33+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" . }