Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_provenance.
- NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_assertion wasGeneratedBy ECO_0000218 NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_provenance.
- NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_assertion wasDerivedFrom ctd_human-20150221 NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_provenance.
- NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_assertion SIO_000772 20493458 NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_provenance.
- NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_assertion evidence source_evidence_curated NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_provenance.
- NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_assertion description "[Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP18458.RAxTu_HHoQXXD1NwsNl6uOvG0WcZt6XowOPQIr28oPDuI130_provenance.