Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_provenance.
- NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_assertion wasGeneratedBy ECO_0000218 NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_provenance.
- NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_assertion wasDerivedFrom uniprot-20130724 NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_provenance.
- NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_assertion SIO_000772 12406339 NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_provenance.
- NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_assertion evidence source_evidence_curated NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_provenance.
- NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_assertion description "[A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_provenance.