Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.
- NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_assertion description "[Both patients had PDH deficiency caused by a new mutation (G585C) in the PDHA1 gene, which is predicted to replace a highly conserved glycine at codon 195 by alanine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.
- NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_assertion evidence source_evidence_literature NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.
- NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_assertion SIO_000772 18504677 NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.
- NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_assertion wasDerivedFrom befree-20150227 NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.
- NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_assertion wasGeneratedBy ECO_0000203 NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.
- befree-20150227 importedOn "2015-02-27" NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.