Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_assertion> ?p ?o ?g. }
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- NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_assertion type Assertion NP1235329.RAsYhk9k1HFQ7edLZ6wrDZbG1Jz9HM4Xpr93aRRdwN4ws130_head.
- 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.