Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_provenance.
- NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_assertion description "[Mutations in EOGT and DOCK6 cause autosomal-recessive AOS, whereas mutations in ARHGAP31, RBPJ, and NOTCH1 lead to autosomal-dominant AOS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_provenance.
- NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_assertion evidence source_evidence_literature NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_provenance.
- NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_assertion SIO_000772 26299364 NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_provenance.
- NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_assertion wasDerivedFrom befree-2016 NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_provenance.
- NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_assertion wasGeneratedBy ECO_0000203 NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_provenance.
- befree-2016 importedOn "2016-02-19" NP1293078.RArexpBhJu4rq8vrKA9E61SRTB7g46Mp9-kVWh8mP_2l0130_provenance.