Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.
- NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_assertion description "[A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.
- NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_assertion evidence source_evidence_curated NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.
- NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_assertion SIO_000772 19061983 NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.
- NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_assertion wasDerivedFrom uniprot-20130724 NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.
- NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_assertion wasGeneratedBy ECO_0000218 NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.