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8% cells mutated causes LQTS

Lili Li
Jan 6, 2019
1 min read

Long QT syndrome (LQTS) in a girl infant caused by 8% of cells carrying a SCN5A mutation.The prevalence of mosaicism among patients with LQTS? "in a population of 7,500 individuals we found evidence of pathogenic early somatic mosaicism in approximately 0.17% of LQTS patients without a genetic diagnosis." https://www.pnas.org/content/113/41/11555.short

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