Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.
- NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_assertion description "[A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.
- NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_assertion evidence source_evidence_literature NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.
- NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_assertion SIO_000772 25188413 NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.
- NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_assertion wasDerivedFrom befree-2016 NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.
- NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_assertion wasGeneratedBy ECO_0000203 NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.
- befree-2016 importedOn "2016-02-19" NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.