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- source_evidence_literature type ECO_0000212 NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_provenance.
- NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_assertion description "[We found that four USH2A mutations (c.239-240insGTAC, c.1000C>T, c.2209C>T, and c.12067-2A>G) account for 64% of mutant alleles underlying USH2 in Jewish families of non-Ashkenazi descent.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_provenance.
- NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_assertion evidence source_evidence_literature NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_provenance.
- NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_assertion SIO_000772 18452394 NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_provenance.
- NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_assertion wasDerivedFrom befree-2016 NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_provenance.
- NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_assertion wasGeneratedBy ECO_0000203 NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_provenance.
- befree-2016 importedOn "2016-02-19" NP669118.RAujIkis8Q-LxcICH7f98mJv-hc2gU2Y1lduW-XW1c79Q130_provenance.