Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_provenance.
- NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_assertion wasGeneratedBy ECO_0000218 NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_provenance.
- NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_assertion wasDerivedFrom uniprot-2016 NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_provenance.
- NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_assertion SIO_000772 10232403 NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_provenance.
- NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_assertion evidence source_evidence_curated NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_provenance.
- NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_assertion description "[An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP153.RAbT4N-LJhXw_2fj9yTHkQ0C3zUlqdr1eiCZ4cCskR4sg130_provenance.