Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.
- NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_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." NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.
- NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_assertion evidence source_evidence_literature NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.
- NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_assertion SIO_000772 22326532 NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.
- NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_assertion wasDerivedFrom befree-20150227 NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.
- NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_assertion wasGeneratedBy ECO_0000203 NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.