@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:NP538718.RAWQfc9ausPjoSv48IhmcK3xBjEd-kffO8qeOh3Wwzk8g130_head { this: np:hasAssertion dgn-np:NP538718.RAWQfc9ausPjoSv48IhmcK3xBjEd-kffO8qeOh3Wwzk8g130_assertion; np:hasProvenance dgn-np:NP538718.RAWQfc9ausPjoSv48IhmcK3xBjEd-kffO8qeOh3Wwzk8g130_provenance; np:hasPublicationInfo dgn-np:NP538718.RAWQfc9ausPjoSv48IhmcK3xBjEd-kffO8qeOh3Wwzk8g130_publicationInfo; a np:Nanopublication . dgn-np:NP538718.RAWQfc9ausPjoSv48IhmcK3xBjEd-kffO8qeOh3Wwzk8g130_assertion a np:Assertion . dgn-np:NP538718.RAWQfc9ausPjoSv48IhmcK3xBjEd-kffO8qeOh3Wwzk8g130_provenance a np:Provenance . dgn-np:NP538718.RAWQfc9ausPjoSv48IhmcK3xBjEd-kffO8qeOh3Wwzk8g130_publicationInfo a np:PublicationInfo . } dgn-np:NP538718.RAWQfc9ausPjoSv48IhmcK3xBjEd-kffO8qeOh3Wwzk8g130_assertion { miriam-gene:2632 a ncit:C16612 . lld:C0017923 a ncit:C7057 . dgn-gda:DGNd7721c2da8c3a254ae05eddd259333a1 sio:SIO_000628 miriam-gene:2632, lld:C0017923; a sio:SIO_001121 . } dgn-np:NP538718.RAWQfc9ausPjoSv48IhmcK3xBjEd-kffO8qeOh3Wwzk8g130_provenance { dgn-np:NP538718.RAWQfc9ausPjoSv48IhmcK3xBjEd-kffO8qeOh3Wwzk8g130_assertion dcterms:description "[Normal skeletal muscle and liver tissue histology and GBE activity, normal GBE activity in skin fibroblasts, plus normal GBE gene sequence in this patient exclude the classical branching enzyme deficiency (type IV GSD).]. 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:15787805; 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:NP538718.RAWQfc9ausPjoSv48IhmcK3xBjEd-kffO8qeOh3Wwzk8g130_publicationInfo { this: dcterms:created "2014-10-02T12:37:25+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" . }