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Article

Association of varicose veins with rare protein-truncating variants in PIEZO1 identified by exome sequencing of a large clinical population.

Journal of vascular surgery. Venous and lymphatic disorders - 1 Mar 2022

Smelser Diane T, Haley Jeremy S, Ryer Evan J, Elmore James R, Cook Adam M, Carey David J

Abstract excerpt

OBJECTIVE: The present study sought to determine whether protein-truncating variants (PTVs) in PIEZO1 and CASZ1 genes, previously shown to be associated with varicose veins, were associated with an altered risk of varicose veins. METHODS: An exome sequence database of 131,918 participants from the Geisinger MyCode Community Health Initiative was used to identify individuals with genetic variants in the PIEZO1 or...

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PMID: 34358671
DOI: 10.1016/j.jvsv.2021.07.007

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