Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_provenance.
- NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_assertion description "[Loss-of-function variants in the ankyrin-B gene (ANK2) cause `ankyrin-B syndrome` (previously called type 4 long QT syndrome), manifested by a complex cardiac phenotype including ventricular arrhythmias and sudden cardiac death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_provenance.
- NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_assertion evidence source_evidence_literature NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_provenance.
- NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_assertion SIO_000772 19394342 NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_provenance.
- NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_assertion wasDerivedFrom befree-20140225 NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_provenance.
- NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_assertion wasGeneratedBy ECO_0000203 NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_provenance.