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- source_evidence_literature type ECO_0000212 NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_provenance.
- NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_assertion description "[A single mutation (6174delT) occurs in the BRCA2 gene in high-risk breast ovarian cancer families of Jewish Ashkenazi origin, in about 1% of the general Ashkenazi population, and rarely in non-Ashkenazi Jews.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_provenance.
- NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_assertion evidence source_evidence_literature NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_provenance.
- NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_assertion SIO_000772 11207041 NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_provenance.
- NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_assertion wasDerivedFrom befree-2016 NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_provenance.
- NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_assertion wasGeneratedBy ECO_0000203 NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_provenance.
- befree-2016 importedOn "2016-02-19" NP308482.RA5eX0Jt8S1-XAuWJyoAPNXGlmOBW4G59eWpa5c1yfT4M130_provenance.