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doi: 10.4088/JCP.09r05346blu
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10.1073/pnas.70.4.1234 207 WangE
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
Chronic alcoholism and the danger of profound hypomagnesemia
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