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- source_evidence_literature type ECO_0000212 NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_provenance.
- NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_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." NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_provenance.
- NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_assertion evidence source_evidence_literature NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_provenance.
- NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_assertion SIO_000772 24470238 NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_provenance.
- NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_assertion wasDerivedFrom befree-20150227 NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_provenance.
- NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_assertion wasGeneratedBy ECO_0000203 NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP918820.RAsglr5eqVVV7xssF7boSRo-xo5WPW91LeOAAKGQ-7QjE130_provenance.