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- source_evidence_literature type ECO_0000212 NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_provenance.
- NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_assertion description "[To identify the cause of disease in patients without JAG1 mutations, we screened 11 JAG1 mutation-negative probands with AGS for alterations in the gene for the Notch2 receptor (NOTCH2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_provenance.
- NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_assertion evidence source_evidence_literature NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_provenance.
- NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_assertion SIO_000772 16773578 NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_provenance.
- NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_assertion wasDerivedFrom befree-2016 NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_provenance.
- NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_assertion wasGeneratedBy ECO_0000203 NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_provenance.
- befree-2016 importedOn "2016-02-19" NP554606.RA_q8aJwyUTY4yiiwtIG5y-EJdotYEVKjNuxI80URqq5M130_provenance.