Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1035660.RAQ_IVxfGRLzIpNzDEbmPFolFJhS4Bg7msvH3eN_pGlnk130_assertion> ?p ?o ?g. }
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- NP1035660.RAQ_IVxfGRLzIpNzDEbmPFolFJhS4Bg7msvH3eN_pGlnk130_assertion type Assertion NP1035660.RAQ_IVxfGRLzIpNzDEbmPFolFJhS4Bg7msvH3eN_pGlnk130_head.
- NP1035660.RAQ_IVxfGRLzIpNzDEbmPFolFJhS4Bg7msvH3eN_pGlnk130_assertion description "[Mutations in the TMEM70 gene are the most common cause of nuclear encoded ATP synthase deficiency resulting in a syndrome characterized by neonatal lactic acidosis, cardiomyopathy, and encephalomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1035660.RAQ_IVxfGRLzIpNzDEbmPFolFJhS4Bg7msvH3eN_pGlnk130_provenance.
- NP1035660.RAQ_IVxfGRLzIpNzDEbmPFolFJhS4Bg7msvH3eN_pGlnk130_assertion evidence source_evidence_literature NP1035660.RAQ_IVxfGRLzIpNzDEbmPFolFJhS4Bg7msvH3eN_pGlnk130_provenance.
- NP1035660.RAQ_IVxfGRLzIpNzDEbmPFolFJhS4Bg7msvH3eN_pGlnk130_assertion SIO_000772 23235116 NP1035660.RAQ_IVxfGRLzIpNzDEbmPFolFJhS4Bg7msvH3eN_pGlnk130_provenance.
- NP1035660.RAQ_IVxfGRLzIpNzDEbmPFolFJhS4Bg7msvH3eN_pGlnk130_assertion wasDerivedFrom befree-2016 NP1035660.RAQ_IVxfGRLzIpNzDEbmPFolFJhS4Bg7msvH3eN_pGlnk130_provenance.
- NP1035660.RAQ_IVxfGRLzIpNzDEbmPFolFJhS4Bg7msvH3eN_pGlnk130_assertion wasGeneratedBy ECO_0000203 NP1035660.RAQ_IVxfGRLzIpNzDEbmPFolFJhS4Bg7msvH3eN_pGlnk130_provenance.