Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_provenance.
- NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_assertion description "[We establish here that loss-of-function mutations in FGFR1 underlie KAL2 whereas a gain-of-function mutation in FGFR1 has been shown to cause a form of craniosynostosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_provenance.
- NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_assertion evidence source_evidence_literature NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_provenance.
- NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_assertion SIO_000772 12627230 NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_provenance.
- NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_assertion wasDerivedFrom befree-20150227 NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_provenance.
- NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_assertion wasGeneratedBy ECO_0000203 NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP400247.RAkd-aRCtwzZB7k09icmYYQIue-cWawA7dqFQ97Gk9NWY130_provenance.