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- source_evidence_literature type ECO_0000212 NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_provenance.
- NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_assertion description "[Data show that mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_provenance.
- NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_assertion evidence source_evidence_literature NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_provenance.
- NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_assertion SIO_000772 15952107 NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_provenance.
- NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_assertion wasDerivedFrom lhgdn-20090331 NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_provenance.
- NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_assertion wasGeneratedBy ECO_0000203 NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP211394.RAQkZY0271PM_drX17hnq1oADGkXokiwTaei_mTzMAxhc130_provenance.