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Article

In vitro analyses of suspected arrhythmogenic thin filament variants as a cause of sudden cardiac death in infants

18 Mar 2019

Abstract excerpt

Significance A major aim of this study was to develop an experimental pipeline for the analysis and assessment of variants potentially causal in sudden cardiac death of infants (SCDI). The TNNI R37C +/− variant in this study was reliably and reproducibly disruptive to the normal physiology, in contrast to that in isogenic controls, across a battery of in silico and in vitro assays. This strengthens the evidence...

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PMID: 30886088
DOI: 10.1073/pnas.1819023116

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