Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_provenance.
- NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_assertion wasGeneratedBy ECO_0000218 NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_provenance.
- NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_assertion wasDerivedFrom uniprot-2016 NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_provenance.
- NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_assertion SIO_000772 8807342 NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_provenance.
- NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_assertion evidence source_evidence_curated NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_provenance.
- NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_assertion description "[Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9140.RAlSHhwpizA7Rj12OCPN0j1GVNXTDslPFH5yBvByGbGq0130_provenance.