Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_provenance.
- NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_assertion wasGeneratedBy ECO_0000218 NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_provenance.
- NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_assertion wasDerivedFrom uniprot-2016 NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_provenance.
- NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_assertion SIO_000772 14566483 NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_provenance.
- NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_assertion evidence source_evidence_curated NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_provenance.
- NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_assertion description "[Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3055.RAVzLS7aSwRIZ3tcoJl2qo1xb2rESydaVpUNWR5B_6bBI130_provenance.