Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_provenance.
- NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_assertion description "[A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_provenance.
- NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_assertion evidence source_evidence_literature NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_provenance.
- NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_assertion SIO_000772 12073015 NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_provenance.
- NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_assertion wasDerivedFrom befree-2016 NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_provenance.
- NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_assertion wasGeneratedBy ECO_0000203 NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_provenance.
- befree-2016 importedOn "2016-02-19" NP358193.RA43Gu-hgz87czkaCtZPO47K0uLyTFyT6ifGU9Xqw_nvI130_provenance.