Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_provenance.
- NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_assertion description "[Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_provenance.
- NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_assertion evidence source_evidence_curated NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_provenance.
- NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_assertion SIO_000772 10852465 NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_provenance.
- NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_assertion wasDerivedFrom uniprot-20150221 NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_provenance.
- NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_assertion wasGeneratedBy ECO_0000218 NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP3295.RAilmPLghmWCZ7GAq4lr7-uDwrkPajTlRj738zt9V7jP0130_provenance.