Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_provenance.
- NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_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." NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_provenance.
- NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_assertion evidence source_evidence_curated NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_provenance.
- NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_assertion SIO_000772 21131976 NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_provenance.
- NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_assertion wasDerivedFrom ctd_human-2016 NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_provenance.
- NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_assertion wasGeneratedBy ECO_0000218 NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP27812.RASK2yV1vR0psqweCYwqBPrfbUl6X30QB3E_0jRDmtB78130_provenance.