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Paper Details

Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.
Heart Rhythm
2
2023
3-bp insertion, ACM, FLNC, FLNC intronic variant, FLNC variant, G, RNA, aberrantly spliced transcripts, arrhythmogenic cardiomyopathy, c., c.970-, cardiomyopathy, filamin, filamin C, haploinsufficiency, iPSC-CMs, induced pluripotent stem cell-derived cardiomyocytes, intronic c.970, palpitations, patient, premature termination codon, proband-derived iPSC-CMs, sodium, splice-altering variant, ventricular arrhythmias, ventricular dysfunction
Author NameAffiliation
Andrew M GlazerVanderbilt University Medical Center
Kenneth C AndersonVanderbilt University Medical Center
Kenneth C AndersonVanderbilt University Medical Center
Han G BrunnerMaastricht University Medical Center
Matthew R G Taylor
Dan M RodenVanderbilt University Medical Center
Diane FatkinVictor Chang Cardiac Research Institute, Australia School of Clinical Medicine, St. Vincent's Hospital
Luisa MestroniCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus
Moore Benjamin ShoemakerVanderbilt University Medical Center
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Release 1.2