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- source_evidence_literature type ECO_0000212 NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_provenance.
- NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_assertion description "[Here, we identify two frameshift mutations and one missense mutation in the AHI1 gene in three consanguineous families with JS, some with cortical polymicrogyria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_provenance.
- NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_assertion evidence source_evidence_literature NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_provenance.
- NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_assertion SIO_000772 15467982 NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_provenance.
- NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_assertion wasDerivedFrom befree-2016 NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_provenance.
- NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_assertion wasGeneratedBy ECO_0000203 NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_provenance.
- befree-2016 importedOn "2016-02-19" NP463305.RAphUS-SQq3Wfyj54SBl10IC0z4mObAqJivBD9bV-HqdM130_provenance.