Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_provenance.
- NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_assertion description "[We report a novel 14724G>A mutation in the mitochondrial tRNA glutamic acid gene in a 4-year-old boy with myopathy and leukoencephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_provenance.
- NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_assertion evidence source_evidence_literature NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_provenance.
- NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_assertion SIO_000772 17266923 NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_provenance.
- NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_assertion wasDerivedFrom befree-2016 NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_provenance.
- NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_assertion wasGeneratedBy ECO_0000203 NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_provenance.
- befree-2016 importedOn "2016-02-19" NP591621.RAzeJGHk1DjP-JdmYi7qTqWD-f11VHxkx-qhvGSnpafPk130_provenance.