@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:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_head { this: np:hasAssertion dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_assertion; np:hasProvenance dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_provenance; np:hasPublicationInfo dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_publicationInfo; a np:Nanopublication . dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_assertion a np:Assertion . dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_provenance a np:Provenance . dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_publicationInfo a np:PublicationInfo . } dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_assertion { miriam-gene:9496 a ncit:C16612 . lld:C1840061 a ncit:C7057 . dgn-gda:DGNa96c9c7da670cfbd80d29ff5155ae75a sio:SIO_000628 miriam-gene:9496, lld:C1840061; a sio:SIO_001122 . } dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_provenance { dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_assertion dcterms:description "[The present identification of heterozygous TBX4 mutations in SPS patients, together with the similar skeletal phenotype of animals lacking Tbx4, establish the importance of TBX4 in the developmental pathways of the lower limbs and the pelvis in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:15106123; prov:wasDerivedFrom dgn-void:uniprot-20130724; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date . } dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_publicationInfo { this: dcterms:created "2014-10-02T12:32:00+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" . }