Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_provenance.
- NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_assertion description "[Mutations in a new gene, SLC19A2, encoding a putative transmembrane protein homologous to the reduced folate carrier proteins, were found in all affected individuals in six TRMA families, suggesting that a defective thiamine transporter protein (THTR-1) may underlie the TRMA syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_provenance.
- NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_assertion evidence source_evidence_literature NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_provenance.
- NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_assertion SIO_000772 10391221 NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_provenance.
- NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_assertion wasDerivedFrom befree-20140225 NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_provenance.
- NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_assertion wasGeneratedBy ECO_0000203 NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP848898.RA6R08Jc0yBk6rOnimzG04tLyqCORZCybxaCHqoNmcauM130_provenance.