Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_provenance.
- befree-2016 importedOn "2016-02-19" NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_provenance.
- NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_assertion wasGeneratedBy ECO_0000203 NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_provenance.
- NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_assertion wasDerivedFrom befree-2016 NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_provenance.
- NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_assertion SIO_000772 23972473 NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_provenance.
- NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_assertion evidence source_evidence_literature NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_provenance.
- NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_assertion description "[The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes Thanatophoric Dysplasia type II, a neonatal lethal congenital dwarfism syndrome, and when acquired somatically, it contributes to carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1104781.RAbOITuztbFCMO5Va8_hFpIjTB-T8yn4EcBeXpIWFtKd4130_provenance.