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- source_evidence_literature type ECO_0000212 NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_provenance.
- NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_assertion description "[The molecular composition of DAPs was recently elucidated and mutations in two genes encoding DAPs components (CEP164/NPHP15, SCLT1) have been associated with human ciliopathies, namely nephronophthisis and orofaciodigital syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_provenance.
- NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_assertion evidence source_evidence_literature NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_provenance.
- NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_assertion SIO_000772 24882706 NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_provenance.
- NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_assertion wasDerivedFrom befree-2016 NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_provenance.
- NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_assertion wasGeneratedBy ECO_0000203 NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_provenance.
- befree-2016 importedOn "2016-02-19" NP1187292.RA4Q1-QsO4qLO7r2zMrlYHaXOpkqG00B315o8T-cEyPsU130_provenance.