Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_provenance.
- NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_assertion wasGeneratedBy ECO_0000218 NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_provenance.
- NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_assertion wasDerivedFrom uniprot-20150221 NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_provenance.
- NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_assertion SIO_000772 22608499 NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_provenance.
- NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_assertion evidence source_evidence_curated NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_provenance.
- NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_assertion description "[Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5141.RAXjp-pK54Ipu3OaLsWucMH03BGUbEWeAHD6LJDcMM_W8130_provenance.