Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_provenance.
- NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_assertion description "[Mutations in POMT1, POMT2, fukutin, FKRP and LARGE genes are found in 20-30% of children with WWS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_provenance.
- NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_assertion evidence source_evidence_literature NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_provenance.
- NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_assertion SIO_000772 18640039 NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_provenance.
- NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_assertion wasDerivedFrom befree-2016 NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_provenance.
- NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_assertion wasGeneratedBy ECO_0000203 NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_provenance.
- befree-2016 importedOn "2016-02-19" NP683249.RAc4C7uCSRmQKi-mAXYQEsfwm37Z4eNiWwS21H-2wH_T4130_provenance.