Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_provenance.
- NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_assertion description "[Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_provenance.
- NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_assertion evidence source_evidence_curated NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_provenance.
- NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_assertion SIO_000772 25130867 NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_provenance.
- NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_assertion wasDerivedFrom uniprot-2016 NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_provenance.
- NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_assertion wasGeneratedBy ECO_0000218 NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7984.RAGMVne44BD7weaO6l0c0GOoG_MKVbD5rFdEGaGGiQZRc130_provenance.