@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:NP792556.RAr7L8cbnLvnkQG3X9oS3NTN7qZluhDWjy0pABFdfiDag130_head { this: np:hasAssertion dgn-np:NP792556.RAr7L8cbnLvnkQG3X9oS3NTN7qZluhDWjy0pABFdfiDag130_assertion; np:hasProvenance dgn-np:NP792556.RAr7L8cbnLvnkQG3X9oS3NTN7qZluhDWjy0pABFdfiDag130_provenance; np:hasPublicationInfo dgn-np:NP792556.RAr7L8cbnLvnkQG3X9oS3NTN7qZluhDWjy0pABFdfiDag130_publicationInfo; a np:Nanopublication . dgn-np:NP792556.RAr7L8cbnLvnkQG3X9oS3NTN7qZluhDWjy0pABFdfiDag130_assertion a np:Assertion . dgn-np:NP792556.RAr7L8cbnLvnkQG3X9oS3NTN7qZluhDWjy0pABFdfiDag130_provenance a np:Provenance . dgn-np:NP792556.RAr7L8cbnLvnkQG3X9oS3NTN7qZluhDWjy0pABFdfiDag130_publicationInfo a np:PublicationInfo . } dgn-np:NP792556.RAr7L8cbnLvnkQG3X9oS3NTN7qZluhDWjy0pABFdfiDag130_assertion { miriam-gene:8200 a ncit:C16612 . lld:C0221357 a ncit:C7057 . dgn-gda:DGN153eb61f6499566d831356566403ca11 sio:SIO_000628 miriam-gene:8200, lld:C0221357; a sio:SIO_001121 . } dgn-np:NP792556.RAr7L8cbnLvnkQG3X9oS3NTN7qZluhDWjy0pABFdfiDag130_provenance { dgn-np:NP792556.RAr7L8cbnLvnkQG3X9oS3NTN7qZluhDWjy0pABFdfiDag130_assertion dcterms:description "[Consequently, our study assembles another part of the molecular puzzle of how loss and gain of function mutations in GDF5 affect bone development in hands and feet resulting in specific types of brachydactyly and SYNS2.]. 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:24098149; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP792556.RAr7L8cbnLvnkQG3X9oS3NTN7qZluhDWjy0pABFdfiDag130_publicationInfo { this: dcterms:created "2015-08-25T14:45:39+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }