@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:NP224579.RAp-pPDc8qpeMH2A-j5zd-K781Zr3Z325YS0Jx33o3cLU130_head { this: np:hasAssertion dgn-np:NP224579.RAp-pPDc8qpeMH2A-j5zd-K781Zr3Z325YS0Jx33o3cLU130_assertion; np:hasProvenance dgn-np:NP224579.RAp-pPDc8qpeMH2A-j5zd-K781Zr3Z325YS0Jx33o3cLU130_provenance; np:hasPublicationInfo dgn-np:NP224579.RAp-pPDc8qpeMH2A-j5zd-K781Zr3Z325YS0Jx33o3cLU130_publicationInfo; a np:Nanopublication . dgn-np:NP224579.RAp-pPDc8qpeMH2A-j5zd-K781Zr3Z325YS0Jx33o3cLU130_assertion a np:Assertion . dgn-np:NP224579.RAp-pPDc8qpeMH2A-j5zd-K781Zr3Z325YS0Jx33o3cLU130_provenance a np:Provenance . dgn-np:NP224579.RAp-pPDc8qpeMH2A-j5zd-K781Zr3Z325YS0Jx33o3cLU130_publicationInfo a np:PublicationInfo . } dgn-np:NP224579.RAp-pPDc8qpeMH2A-j5zd-K781Zr3Z325YS0Jx33o3cLU130_assertion { miriam-gene:6329 a ncit:C16612 . lld:C0024591 a ncit:C7057 . dgn-gda:DGNb6dae1714b2cfd8dd84203772df9f54a sio:SIO_000628 miriam-gene:6329, lld:C0024591; a sio:SIO_001121 . } dgn-np:NP224579.RAp-pPDc8qpeMH2A-j5zd-K781Zr3Z325YS0Jx33o3cLU130_provenance { dgn-np:NP224579.RAp-pPDc8qpeMH2A-j5zd-K781Zr3Z325YS0Jx33o3cLU130_assertion dcterms:description "[Our results exclude the alpha 1, beta 1, and gamma subunit of the DHP receptor as well as the SCN4A locus as candidates for the molecular defect in MHS for these pedigrees where also the RYR1 on chromosome 19q13.1 has been excluded.]. 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:8395939; 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:NP224579.RAp-pPDc8qpeMH2A-j5zd-K781Zr3Z325YS0Jx33o3cLU130_publicationInfo { this: dcterms:created "2014-10-02T12:34:04+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" . }