Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP595208.RASVJrnZaf8aa6JvNZAA_uQplktOZqVPM7YvrMwD1TQtI130_assertion> ?p ?o ?g. }
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- NP595208.RASVJrnZaf8aa6JvNZAA_uQplktOZqVPM7YvrMwD1TQtI130_assertion type Assertion NP595208.RASVJrnZaf8aa6JvNZAA_uQplktOZqVPM7YvrMwD1TQtI130_head.
- NP595208.RASVJrnZaf8aa6JvNZAA_uQplktOZqVPM7YvrMwD1TQtI130_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." NP595208.RASVJrnZaf8aa6JvNZAA_uQplktOZqVPM7YvrMwD1TQtI130_provenance.
- NP595208.RASVJrnZaf8aa6JvNZAA_uQplktOZqVPM7YvrMwD1TQtI130_assertion evidence source_evidence_literature NP595208.RASVJrnZaf8aa6JvNZAA_uQplktOZqVPM7YvrMwD1TQtI130_provenance.
- NP595208.RASVJrnZaf8aa6JvNZAA_uQplktOZqVPM7YvrMwD1TQtI130_assertion SIO_000772 19394342 NP595208.RASVJrnZaf8aa6JvNZAA_uQplktOZqVPM7YvrMwD1TQtI130_provenance.
- NP595208.RASVJrnZaf8aa6JvNZAA_uQplktOZqVPM7YvrMwD1TQtI130_assertion wasDerivedFrom befree-20140225 NP595208.RASVJrnZaf8aa6JvNZAA_uQplktOZqVPM7YvrMwD1TQtI130_provenance.
- NP595208.RASVJrnZaf8aa6JvNZAA_uQplktOZqVPM7YvrMwD1TQtI130_assertion wasGeneratedBy ECO_0000203 NP595208.RASVJrnZaf8aa6JvNZAA_uQplktOZqVPM7YvrMwD1TQtI130_provenance.