@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:NP598869.RAi2cpHjwrPF1OmXsJwBeljdONj0UFEHweRsPt0ugBj1c130_head { this: np:hasAssertion dgn-np:NP598869.RAi2cpHjwrPF1OmXsJwBeljdONj0UFEHweRsPt0ugBj1c130_assertion; np:hasProvenance dgn-np:NP598869.RAi2cpHjwrPF1OmXsJwBeljdONj0UFEHweRsPt0ugBj1c130_provenance; np:hasPublicationInfo dgn-np:NP598869.RAi2cpHjwrPF1OmXsJwBeljdONj0UFEHweRsPt0ugBj1c130_publicationInfo; a np:Nanopublication . dgn-np:NP598869.RAi2cpHjwrPF1OmXsJwBeljdONj0UFEHweRsPt0ugBj1c130_assertion a np:Assertion . dgn-np:NP598869.RAi2cpHjwrPF1OmXsJwBeljdONj0UFEHweRsPt0ugBj1c130_provenance a np:Provenance . dgn-np:NP598869.RAi2cpHjwrPF1OmXsJwBeljdONj0UFEHweRsPt0ugBj1c130_publicationInfo a np:PublicationInfo . } dgn-np:NP598869.RAi2cpHjwrPF1OmXsJwBeljdONj0UFEHweRsPt0ugBj1c130_assertion { miriam-gene:5727 a ncit:C16612 . lld:C0079541 a ncit:C7057 . dgn-gda:DGNc8eae877608be088ce27c29e6adab14c sio:SIO_000628 miriam-gene:5727, lld:C0079541; a sio:SIO_001121 . } dgn-np:NP598869.RAi2cpHjwrPF1OmXsJwBeljdONj0UFEHweRsPt0ugBj1c130_provenance { dgn-np:NP598869.RAi2cpHjwrPF1OmXsJwBeljdONj0UFEHweRsPt0ugBj1c130_assertion dcterms:description "[Disorders of the sonic hedgehog signaling network are discussed next, including holoprosencephaly and the nevoid basal cell carcinoma syndrome, the former being caused by sonic hedgehog (SHH) mutations and the latter being caused by patched mutations (PTCH).]. 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:12772530; 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:NP598869.RAi2cpHjwrPF1OmXsJwBeljdONj0UFEHweRsPt0ugBj1c130_publicationInfo { this: dcterms:created "2014-10-02T12:38:00+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" . }