A Frameshift Variant in the Acylglycerol Kinase Gene Displays a Unique Role in the Etiology of Papillary Thyroid Carcinoma
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Date
2020-05
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The Ohio State University
Abstract
In a recent study, WGS of 17 families with incidence of NMTC led to the identification of 41 significant germline variants in 40 genes including 24 missense, five frameshift, five splice change, and seven nonsense variants (Wang et, al. 2019). Of such identified variants, one, located within the Acylglycerol Kinase (AGK) gene (AGK c.521_522), is both a frameshift and splice region variant. In this study, the role of AGK in the etiology of PTC has been characterized further.