Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_provenance.
- NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_assertion description "[We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_provenance.
- NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_assertion evidence source_evidence_literature NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_provenance.
- NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_assertion SIO_000772 21044901 NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_provenance.
- NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_assertion wasDerivedFrom befree-2016 NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_provenance.
- NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_assertion wasGeneratedBy ECO_0000203 NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_provenance.
- befree-2016 importedOn "2016-02-19" NP849990.RAgcub-4iQL-Ugv7O9n35FdY8wAT3oVzP1wcxMUGM5ESM130_provenance.