Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1149582.RASaBZV02r2gdzlJWj0rCOvEn8tSzVSndN-DRY_AHQTQ4130_assertion> ?p ?o ?g. }
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- NP1149582.RASaBZV02r2gdzlJWj0rCOvEn8tSzVSndN-DRY_AHQTQ4130_assertion type Assertion NP1149582.RASaBZV02r2gdzlJWj0rCOvEn8tSzVSndN-DRY_AHQTQ4130_head.
- NP1149582.RASaBZV02r2gdzlJWj0rCOvEn8tSzVSndN-DRY_AHQTQ4130_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." NP1149582.RASaBZV02r2gdzlJWj0rCOvEn8tSzVSndN-DRY_AHQTQ4130_provenance.
- NP1149582.RASaBZV02r2gdzlJWj0rCOvEn8tSzVSndN-DRY_AHQTQ4130_assertion evidence source_evidence_literature NP1149582.RASaBZV02r2gdzlJWj0rCOvEn8tSzVSndN-DRY_AHQTQ4130_provenance.
- NP1149582.RASaBZV02r2gdzlJWj0rCOvEn8tSzVSndN-DRY_AHQTQ4130_assertion SIO_000772 24470238 NP1149582.RASaBZV02r2gdzlJWj0rCOvEn8tSzVSndN-DRY_AHQTQ4130_provenance.
- NP1149582.RASaBZV02r2gdzlJWj0rCOvEn8tSzVSndN-DRY_AHQTQ4130_assertion wasDerivedFrom befree-2016 NP1149582.RASaBZV02r2gdzlJWj0rCOvEn8tSzVSndN-DRY_AHQTQ4130_provenance.
- NP1149582.RASaBZV02r2gdzlJWj0rCOvEn8tSzVSndN-DRY_AHQTQ4130_assertion wasGeneratedBy ECO_0000203 NP1149582.RASaBZV02r2gdzlJWj0rCOvEn8tSzVSndN-DRY_AHQTQ4130_provenance.