Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_provenance.
- NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_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." NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_provenance.
- NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_assertion evidence source_evidence_curated NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_provenance.
- NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_assertion SIO_000772 20493458 NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_provenance.
- NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_assertion wasDerivedFrom ctd_human-2016 NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_provenance.
- NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_assertion wasGeneratedBy ECO_0000218 NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP26213.RArY-cUxu_cO5IefnrzOF4AEARgRl6JUidgqQ4RQaSPi4130_provenance.