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- source_evidence_literature type ECO_0000212 NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_provenance.
- NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_assertion description "[This is the third reported mutation in CERKL causing retinal degeneration but is the first report to show that a single amino acid change in CERKL, rather than a null mutation, can cause retinal disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_provenance.
- NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_assertion evidence source_evidence_literature NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_provenance.
- NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_assertion SIO_000772 18978954 NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_provenance.
- NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_assertion wasDerivedFrom befree-20150227 NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_provenance.
- NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_assertion wasGeneratedBy ECO_0000203 NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP988711.RAjuhKXr1SjKh1WVXaygwJtslyU369TpYykBTZ-C-_4BM130_provenance.