Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_provenance.
- NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_assertion wasGeneratedBy ECO_0000218 NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_provenance.
- NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_assertion wasDerivedFrom uniprot-2016 NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_provenance.
- NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_assertion SIO_000772 12746442 NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_provenance.
- NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_assertion evidence source_evidence_curated NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_provenance.
- NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_assertion description "[This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2688.RAPi5hhwd_2NuTNU1W-mBHilh3j3gRni8u1A93BA6WFnY130_provenance.