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- source_evidence_literature type ECO_0000212 NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_provenance.
- NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_assertion wasGeneratedBy ECO_0000203 NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_provenance.
- NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_assertion wasDerivedFrom befree-2016 NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_provenance.
- NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_assertion SIO_000772 24118499 NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_provenance.
- NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_assertion evidence source_evidence_literature NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_provenance.
- NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_assertion description "[Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1118385.RAD10bOCjiXP5_02FFSlS2xzUgWe_IAU9jeWN6717stkc130_provenance.