Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_provenance.
- NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_assertion description "[In a search for new breast cancer (BC) predisposing genes, we performed a whole exome sequencing analysis using six patient samples of familial BC and identified a germline inactivating mutation c.183delG [p. Arg61fs] in an orphan G protein-coupled receptor GPRC5A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_provenance.
- NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_assertion evidence source_evidence_literature NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_provenance.
- NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_assertion SIO_000772 24470238 NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_provenance.
- NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_assertion wasDerivedFrom befree-2016 NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_provenance.
- NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_assertion wasGeneratedBy ECO_0000203 NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1149576.RAhpgjpnsBzlXOsaZAdRNH2y7nRUagqYOJmsYf-zMsRLY130_provenance.