Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_assertion type Assertion NP479275.RAKyy6iIP3S3TZdly5QOSDfRY8a8QH2iKzzf5bDP3OHPA130_head.
- 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.