Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.
- NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_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." NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.
- NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_assertion evidence source_evidence_literature NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.
- NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_assertion SIO_000772 22326532 NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.
- NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_assertion wasDerivedFrom befree-2016 NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.
- NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_assertion wasGeneratedBy ECO_0000203 NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.
- befree-2016 importedOn "2016-02-19" NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.