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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide

Bhavik P Shah1,2, Patrick M Sleiman1, Jessica Mc Donald1

  • 1Rhythm Pharmaceuticals, Inc, Boston, MA, USA.

Expert Review of Endocrinology & Metabolism
|March 3, 2023
PubMed
Abstract

Keywords:
Functional assaysmelanocortin signalingmonogenic obesityvariantsvariants of uncertain significance

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