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- source_evidence_literature type ECO_0000212 NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_provenance.
- NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_assertion description "[CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_provenance.
- NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_assertion evidence source_evidence_literature NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_provenance.
- NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_assertion SIO_000772 18950740 NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_provenance.
- NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_assertion wasDerivedFrom befree-20140225 NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_provenance.
- NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_assertion wasGeneratedBy ECO_0000203 NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP811048.RAV1au8RfZNtX9Qx8DOBGzvZP7wIdx66oy9LZLfOXlNjY130_provenance.