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SKU: 32635321443

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USD29.73 USD53.73

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Snyder L

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Granulocyte macrophage colony-stimulating factor and the intestinal innate immune cell homeostasis in Crohns disease

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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

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