Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_provenance.
- NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_assertion description "[The COQ2 p.S146N substitution has been previously reported as a pathogenic mutation in primary CoQ10 deficiency (including infantile multisystem disorder) in a recessive manner.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_provenance.
- NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_assertion evidence source_evidence_literature NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_provenance.
- NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_assertion SIO_000772 25373618 NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_provenance.
- NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_assertion wasDerivedFrom befree-2016 NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_provenance.
- NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_assertion wasGeneratedBy ECO_0000203 NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_provenance.
- befree-2016 importedOn "2016-02-19" NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_provenance.