Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_provenance.
- NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_assertion description "[Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_provenance.
- NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_assertion evidence source_evidence_curated NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_provenance.
- NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_assertion SIO_000772 22956686 NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_provenance.
- NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_assertion wasDerivedFrom uniprot-2016 NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_provenance.
- NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_assertion wasGeneratedBy ECO_0000218 NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7203.RA8MkAlyzYnaAxe_bdV6h5q84Z2YWkd-sOyG1C6GjAypk130_provenance.