Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.
- NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_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." NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.
- NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_assertion evidence source_evidence_curated NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.
- NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_assertion SIO_000772 22326532 NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.
- NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_assertion wasDerivedFrom uniprot-20150221 NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.
- NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_assertion wasGeneratedBy ECO_0000218 NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.