@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:NP852895.RADkRtBc6_BL4GVnp7RprIqbvAAcuNXuMkK9aSzjSUIfk130_head { this: np:hasAssertion dgn-np:NP852895.RADkRtBc6_BL4GVnp7RprIqbvAAcuNXuMkK9aSzjSUIfk130_assertion; np:hasProvenance dgn-np:NP852895.RADkRtBc6_BL4GVnp7RprIqbvAAcuNXuMkK9aSzjSUIfk130_provenance; np:hasPublicationInfo dgn-np:NP852895.RADkRtBc6_BL4GVnp7RprIqbvAAcuNXuMkK9aSzjSUIfk130_publicationInfo; a np:Nanopublication . dgn-np:NP852895.RADkRtBc6_BL4GVnp7RprIqbvAAcuNXuMkK9aSzjSUIfk130_assertion a np:Assertion . dgn-np:NP852895.RADkRtBc6_BL4GVnp7RprIqbvAAcuNXuMkK9aSzjSUIfk130_provenance a np:Provenance . dgn-np:NP852895.RADkRtBc6_BL4GVnp7RprIqbvAAcuNXuMkK9aSzjSUIfk130_publicationInfo a np:PublicationInfo . } dgn-np:NP852895.RADkRtBc6_BL4GVnp7RprIqbvAAcuNXuMkK9aSzjSUIfk130_assertion { miriam-gene:2737 a ncit:C16612 . lld:C0010278 a ncit:C7057 . dgn-gda:DGN8cba974b2e39e980f24691a36ecb894c sio:SIO_000628 miriam-gene:2737, lld:C0010278; a sio:SIO_001121 . } dgn-np:NP852895.RADkRtBc6_BL4GVnp7RprIqbvAAcuNXuMkK9aSzjSUIfk130_provenance { dgn-np:NP852895.RADkRtBc6_BL4GVnp7RprIqbvAAcuNXuMkK9aSzjSUIfk130_assertion dcterms:description "[The most common genetic mutations identified in syndromic craniosynostosis involve the fibroblast growth factor receptor (FGFR) family with other mutations occurring in genes for transcription factors TWIST, MSX2, and GLI3, and other proteins EFNB1, RAB23, RECQL4, and POR, presumed to be involved either upstream or downstream of the FGFR signaling pathway.]. 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:21082653; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP852895.RADkRtBc6_BL4GVnp7RprIqbvAAcuNXuMkK9aSzjSUIfk130_publicationInfo { this: dcterms:created "2016-05-13T12:48:11+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }