@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:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_head { this: np:hasAssertion dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_assertion; np:hasProvenance dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_provenance; np:hasPublicationInfo dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_publicationInfo; a np:Nanopublication . dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_assertion a np:Assertion . dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_provenance a np:Provenance . dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_publicationInfo a np:PublicationInfo . } dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_assertion { miriam-gene:414 a ncit:C16612 . lld:C0344724 a ncit:C7057 . dgn-gda:DGN3e1fcab9a285ab3a5ef6e7f6cc400745 sio:SIO_000628 miriam-gene:414, lld:C0344724; a sio:SIO_001121 . } dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_provenance { dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_assertion dcterms:description "[In addition to clinical manifestations generally observed with ring chromosome 12 such as growth retardation, mental deficiency, microcephaly, the patient had bilateral pseudocamptodactyly of little fingers, mild hirsutism, exaggerated lumbar lordosis, and ostium secundum atrial septal defect (ASD).]. 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:12599192; 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:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_publicationInfo { this: dcterms:created "2014-10-02T12:33:45+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" . }