Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.
- NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_assertion description "[A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.
- NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_assertion evidence source_evidence_literature NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.
- NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_assertion SIO_000772 24095819 NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.
- NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_assertion wasDerivedFrom befree-2016 NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.
- NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_assertion wasGeneratedBy ECO_0000203 NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.
- befree-2016 importedOn "2016-02-19" NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.