Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_provenance.
- NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_assertion description "[We identified mutations in POR, encoding P450 oxidoreductase, the obligate electron donor for these enzymes, in a woman with amenorrhea and three children with ABS, even though knock-out of POR is embryonically lethal in mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_provenance.
- NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_assertion evidence source_evidence_curated NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_provenance.
- NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_assertion SIO_000772 14758361 NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_provenance.
- NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_assertion wasDerivedFrom ctd_human-20130708 NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_provenance.
- NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_assertion wasGeneratedBy ECO_0000218 NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP26811.RA7FqyKJnJfz0VCFJCr2X-3p0uZSjKTpkzETqrh5qrJ-I130_provenance.