Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_provenance.
- NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_assertion description "[We conclude that ELAC2/HPC2 truncating mutations are rare in HPC, but that rare variants of the ELAC2/HPC2 require additional study as risk factors for PRCA in the general population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_provenance.
- NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_assertion evidence source_evidence_literature NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_provenance.
- NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_assertion SIO_000772 11507049 NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_provenance.
- NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_assertion wasDerivedFrom befree-20140225 NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_provenance.
- NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_assertion wasGeneratedBy ECO_0000203 NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_provenance.
- befree-20140225 importedOn "2014-02-25" NP212277.RAVki21vGy6zohsB-87hmKMcwjboCs4XR1z7FJRyLIzms130_provenance.