@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:NP580497.RATIHdrarZ8Cuy3AofVhP-eI-3RZrVNp6h0W9NtEptCMY130_head { this: np:hasAssertion dgn-np:NP580497.RATIHdrarZ8Cuy3AofVhP-eI-3RZrVNp6h0W9NtEptCMY130_assertion; np:hasProvenance dgn-np:NP580497.RATIHdrarZ8Cuy3AofVhP-eI-3RZrVNp6h0W9NtEptCMY130_provenance; np:hasPublicationInfo dgn-np:NP580497.RATIHdrarZ8Cuy3AofVhP-eI-3RZrVNp6h0W9NtEptCMY130_publicationInfo; a np:Nanopublication . dgn-np:NP580497.RATIHdrarZ8Cuy3AofVhP-eI-3RZrVNp6h0W9NtEptCMY130_assertion a np:Assertion . dgn-np:NP580497.RATIHdrarZ8Cuy3AofVhP-eI-3RZrVNp6h0W9NtEptCMY130_provenance a np:Provenance . dgn-np:NP580497.RATIHdrarZ8Cuy3AofVhP-eI-3RZrVNp6h0W9NtEptCMY130_publicationInfo a np:PublicationInfo . } dgn-np:NP580497.RATIHdrarZ8Cuy3AofVhP-eI-3RZrVNp6h0W9NtEptCMY130_assertion { miriam-gene:8878 a ncit:C16612 . lld:C0032064 a ncit:C7057 . dgn-gda:DGN9ae0a31c2672d17b6c9a57c188592d05 sio:SIO_000628 miriam-gene:8878, lld:C0032064; a sio:SIO_001121 . } dgn-np:NP580497.RATIHdrarZ8Cuy3AofVhP-eI-3RZrVNp6h0W9NtEptCMY130_provenance { dgn-np:NP580497.RATIHdrarZ8Cuy3AofVhP-eI-3RZrVNp6h0W9NtEptCMY130_assertion dcterms:description "[PDB mutations that disrupt the function of the PEST domain of SQSTM1 have not been reported before, so probably the pathogenic effect of both transcripts resides in the disruption of the ubiquitin-binding properties of the protein.]. 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:17120186; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP580497.RATIHdrarZ8Cuy3AofVhP-eI-3RZrVNp6h0W9NtEptCMY130_publicationInfo { this: dcterms:created "2016-05-13T12:46:08+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }