Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP222530.RAmKs0zXUYSxaHGMpOrIl3KAqFK6sYLz5s9XNpzZKBPko130_assertion> ?p ?o ?g. }
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- NP222530.RAmKs0zXUYSxaHGMpOrIl3KAqFK6sYLz5s9XNpzZKBPko130_assertion type Assertion NP222530.RAmKs0zXUYSxaHGMpOrIl3KAqFK6sYLz5s9XNpzZKBPko130_head.
- NP222530.RAmKs0zXUYSxaHGMpOrIl3KAqFK6sYLz5s9XNpzZKBPko130_assertion description "[A patient with Leigh syndrome (LS), born to consanguineous parents, with severe complex I defect and a novel mutation in the NDUFS7 gene subunit.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP222530.RAmKs0zXUYSxaHGMpOrIl3KAqFK6sYLz5s9XNpzZKBPko130_provenance.
- NP222530.RAmKs0zXUYSxaHGMpOrIl3KAqFK6sYLz5s9XNpzZKBPko130_assertion evidence source_evidence_literature NP222530.RAmKs0zXUYSxaHGMpOrIl3KAqFK6sYLz5s9XNpzZKBPko130_provenance.
- NP222530.RAmKs0zXUYSxaHGMpOrIl3KAqFK6sYLz5s9XNpzZKBPko130_assertion SIO_000772 17275378 NP222530.RAmKs0zXUYSxaHGMpOrIl3KAqFK6sYLz5s9XNpzZKBPko130_provenance.
- NP222530.RAmKs0zXUYSxaHGMpOrIl3KAqFK6sYLz5s9XNpzZKBPko130_assertion wasDerivedFrom lhgdn-20090331 NP222530.RAmKs0zXUYSxaHGMpOrIl3KAqFK6sYLz5s9XNpzZKBPko130_provenance.
- NP222530.RAmKs0zXUYSxaHGMpOrIl3KAqFK6sYLz5s9XNpzZKBPko130_assertion wasGeneratedBy ECO_0000203 NP222530.RAmKs0zXUYSxaHGMpOrIl3KAqFK6sYLz5s9XNpzZKBPko130_provenance.