@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:NP325404.RAC0WpYiIw8ORWwr18TVaJfrXPwWKq5J5zBwCy_T8x3OM130_head { this: np:hasAssertion dgn-np:NP325404.RAC0WpYiIw8ORWwr18TVaJfrXPwWKq5J5zBwCy_T8x3OM130_assertion; np:hasProvenance dgn-np:NP325404.RAC0WpYiIw8ORWwr18TVaJfrXPwWKq5J5zBwCy_T8x3OM130_provenance; np:hasPublicationInfo dgn-np:NP325404.RAC0WpYiIw8ORWwr18TVaJfrXPwWKq5J5zBwCy_T8x3OM130_publicationInfo; a np:Nanopublication . dgn-np:NP325404.RAC0WpYiIw8ORWwr18TVaJfrXPwWKq5J5zBwCy_T8x3OM130_assertion a np:Assertion . dgn-np:NP325404.RAC0WpYiIw8ORWwr18TVaJfrXPwWKq5J5zBwCy_T8x3OM130_provenance a np:Provenance . dgn-np:NP325404.RAC0WpYiIw8ORWwr18TVaJfrXPwWKq5J5zBwCy_T8x3OM130_publicationInfo a np:PublicationInfo . } dgn-np:NP325404.RAC0WpYiIw8ORWwr18TVaJfrXPwWKq5J5zBwCy_T8x3OM130_assertion { miriam-gene:9768 a ncit:C16612 . lld:C0235480 a ncit:C7057 . dgn-gda:DGNf0227cd680672392af4b31985084704c sio:SIO_000628 miriam-gene:9768, lld:C0235480; a sio:SIO_001121 . } dgn-np:NP325404.RAC0WpYiIw8ORWwr18TVaJfrXPwWKq5J5zBwCy_T8x3OM130_provenance { dgn-np:NP325404.RAC0WpYiIw8ORWwr18TVaJfrXPwWKq5J5zBwCy_T8x3OM130_assertion dcterms:description "[Recently, a point mutation (G to T transversion) of the PAF acetylhydrolase gene was observed at position 994, and this mutation was found to contribute to the variability in plasma PAF levels, with undetectable plasma PAF acetylhydrolase activity occurring in homozygous patients (TT genotype) and reduced levels of activity in heterozygous patients (GT genotype).]. 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:10430976; 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:NP325404.RAC0WpYiIw8ORWwr18TVaJfrXPwWKq5J5zBwCy_T8x3OM130_publicationInfo { this: dcterms:created "2014-10-02T12:35:10+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" . }