Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_provenance.
- NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_assertion wasGeneratedBy ECO_0000203 NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_provenance.
- NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_assertion wasDerivedFrom befree-20140225 NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_provenance.
- NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_assertion SIO_000772 12825073 NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_provenance.
- NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_assertion evidence source_evidence_literature NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_provenance.
- NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_assertion description "[Only in one male patient did we find a PHKA1 missense mutation (D299V) that explains the enzyme deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP668934.RA45v6q0sWMkdEQKcViPQZFoxLF0yvsKcVsGOh0YA4LNY130_provenance.