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95% CI 0.58-0.83) (75)

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We report on the performance of whole-exome sequencing in members of a consanguineous family with a history of pediatric hypertrophic cardiomyopathy and sudden cardiac death, which led to the identification of a homozygous stop variant in the SLC22A5 gene, implicated in primary carnitine deficiency, as the likely genetic cause

Before evaluating any investigational compound, understanding baseline liver enzyme status establishes whether liver function is within normal parameters