Article
Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.
Human molecular genetics - 15 Oct 2014
Rees Matthew G, Raimondo Anne, Wang Jian, Ban Matthew R, Davis Mindy I, Barrett Amy, Ranft Jessica, Jagdhuhn David, Waterstradt Rica, Baltrusch Simone, Simeonov Anton, Collins Francis S, Hegele Robert A, Gloyn Anna L
Abstract excerpt
Significant resources have been invested in sequencing studies to investigate the role of rare variants in complex disease etiology. However, the diagnostic interpretation of individual rare variants remains a major challenge, and may require accurate variant functional classification and the col...
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