@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:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_head { this: np:hasAssertion dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_assertion; np:hasProvenance dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_provenance; np:hasPublicationInfo dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_publicationInfo; a np:Nanopublication . dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_assertion a np:Assertion . dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_provenance a np:Provenance . dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_publicationInfo a np:PublicationInfo . } dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_assertion { miriam-gene:3265 a ncit:C16612 . lld:C0027868 a ncit:C7057 . dgn-gda:DGN626152e8abf49e25374462099e032da7 sio:SIO_000628 miriam-gene:3265, lld:C0027868; a sio:SIO_001121 . } dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_provenance { dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_assertion dcterms:description "[However, some patients carrying HRAS mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline HRAS mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders.]. 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:17412879; 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:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_publicationInfo { this: dcterms:created "2014-10-02T12:37:57+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" . }