Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_provenance.
- NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_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." NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_provenance.
- NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_assertion evidence source_evidence_curated NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_provenance.
- NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_assertion SIO_000772 19061983 NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_provenance.
- NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_assertion wasDerivedFrom uniprot-2016 NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_provenance.
- NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_assertion wasGeneratedBy ECO_0000218 NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5602.RAcD7xDaFxKVGCiRzB_nDukTQxSbBw7r8hdnhREtvnG8Y130_provenance.