Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.
- NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_assertion description "[Here, we identify two frameshift mutations and one missense mutation in the AHI1 gene in three consanguineous families with JS, some with cortical polymicrogyria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.
- NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_assertion evidence source_evidence_literature NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.
- NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_assertion SIO_000772 15467982 NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.
- NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_assertion wasDerivedFrom befree-20140225 NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.
- NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_assertion wasGeneratedBy ECO_0000203 NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.
- befree-20140225 importedOn "2014-02-25" NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.