Cardiac Isoform Analysis As shown in Table 4 , cohort families with 2 mutations predicted to impact both N2BA and N2B cardiac isoforms showed a trend toward an increased likelihood of cardiac involvement ( p Fisher = 0.087, odds ratio [OR] = 6.0, 95% confidence interval [CI] = 0.78–78).
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Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
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