Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_provenance.
- NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_assertion description "[Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_provenance.
- NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_assertion evidence source_evidence_literature NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_provenance.
- NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_assertion SIO_000772 15952107 NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_provenance.
- NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_assertion wasDerivedFrom befree-20150227 NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_provenance.
- NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_assertion wasGeneratedBy ECO_0000203 NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_provenance.
- befree-20150227 importedOn "2015-02-27" NP848113.RAI0n534ynq-GfwVQw0PS_siAZrGBuvdZ61dw5SvsYq0g130_provenance.