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- source_evidence_literature type ECO_0000212 NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_provenance.
- NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_assertion description "[Through exome sequencing we identified compound heterozygous mutations in WDR19 in a Norwegian family with Sensenbrenner syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_provenance.
- NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_assertion evidence source_evidence_literature NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_provenance.
- NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_assertion SIO_000772 22019273 NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_provenance.
- NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_assertion wasDerivedFrom befree-2016 NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_provenance.
- NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_assertion wasGeneratedBy ECO_0000203 NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_provenance.
- befree-2016 importedOn "2016-02-19" NP932809.RAoJ7sQ1FJ641ph1DAJUG5e8x0zg-Dvb7cKaWqxU_rjuk130_provenance.