Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_provenance.
- NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_assertion description "[Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_provenance.
- NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_assertion evidence source_evidence_curated NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_provenance.
- NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_assertion SIO_000772 21131976 NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_provenance.
- NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_assertion wasDerivedFrom ctd_human-2016 NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_provenance.
- NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_assertion wasGeneratedBy ECO_0000218 NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP27811.RA9kl-gF3FfMnTjWQ1B3b2Upg3uN5kDM81tngboJMSI-k130_provenance.