Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_provenance.
- NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_assertion wasGeneratedBy ECO_0000218 NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_provenance.
- NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_assertion wasDerivedFrom uniprot-20130724 NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_provenance.
- NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_assertion SIO_000772 10232403 NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_provenance.
- NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_assertion evidence source_evidence_curated NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_provenance.
- NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_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." NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_provenance.