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Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations - Journal of Human Genetics

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Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations - Journal of Human Genetics

Recent studies have shown that the PI3K signaling pathway plays an important role in the pathogenesis of slow-flow vascular malformations (SFVMs). Analysis of genetic mutations has advanced our understanding of the mechanisms involved in SFVM pathogenesis and may identify new therapeutic targets. We screened for somatic variants in a cohort of patients with SFVMs using targeted next-generation sequencing.

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genetic patients vascular malformations science biology genetics health

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Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations - Journal of Human Genetics

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Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations - Journal of Human Genetics

Rate This Post

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Unlocking the Power of Knowledge
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