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- source_evidence_literature type ECO_0000212 NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_provenance.
- NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_assertion description "[Mutation analysis showed the presence of a nonsense mutation within BRCA1 exon 12 in two individuals, mother and daughter, affected by breast and peritoneal cancer, respectively, as well as in the son, who had rectal cancer at the early age of 27 years.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_provenance.
- NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_assertion evidence source_evidence_literature NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_provenance.
- NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_assertion SIO_000772 12217765 NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_provenance.
- NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_assertion wasDerivedFrom befree-20140225 NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_provenance.
- NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_assertion wasGeneratedBy ECO_0000203 NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_provenance.