Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.
- NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_assertion description "[Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.
- NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_assertion evidence source_evidence_curated NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.
- NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_assertion SIO_000772 22326532 NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.
- NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_assertion wasDerivedFrom uniprot-20130724 NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.
- NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_assertion wasGeneratedBy ECO_0000218 NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.