@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:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_head { this: np:hasAssertion dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_assertion; np:hasProvenance dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_provenance; np:hasPublicationInfo dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_publicationInfo; a np:Nanopublication . dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_assertion a np:Assertion . dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_provenance a np:Provenance . dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_publicationInfo a np:PublicationInfo . } dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_assertion { miriam-gene:1146 a ncit:C16612 . lld:C1276035 a ncit:C7057 . dgn-gda:DGNb10c1060bce6ac6cf358d0dc0aa18930 sio:SIO_000628 miriam-gene:1146, lld:C1276035; a sio:SIO_001121 . } dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_provenance { dgn-np:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_assertion dcterms:description "[Acetylcholine receptor (AChR) components are suspects because mutations in the fetally expressed gamma subunit (CHRNG) of AChR were found in two FADS disorders, lethal multiple pterygium syndrome (LMPS) and Escobar syndrome.]. 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:18252226; 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:NP726181.RAbcaQTApbgG8ESAdDBFBrtXOuTPCdG0D0E0CHeExWE58130_publicationInfo { this: dcterms:created "2014-10-02T12:39:20+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" . }