Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability

Moore, BS; Mirshahi, T

Mirshahi, T (reprint author), Weis Ctr Res, Geisinger Clin, Mol & Funct Genom, Danville, PA 17822 USA.; Mirshahi, T (reprint author), Geisinger Med Clin, Geisinger Obes Inst, Danville, PA 17822 USA.

SCIENTIFIC REPORTS, 2018; 8 ():

Abstract

Screening 92,445 subjects in the Geisinger-Regeneron DiscovEHR cohort, we identified 5 patients heterozygous for nonsense mutations causing early term......

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