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Expert Review of Endocrinology & Metabolism Volume 18, 2023 - Issue 2
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Original Research

Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants

Bhavik P. Shaha Rhythm Pharmaceuticals, Inc, Boston, MA, USA;b Bridgebio Pharma, Palo Alto, CAView further author information
,
Patrick M. Sleimana Rhythm Pharmaceuticals, Inc, Boston, MA, USAView further author information
,
Jessica Mc Donalda Rhythm Pharmaceuticals, Inc, Boston, MA, USAView further author information
,
Ida H. Moellera Rhythm Pharmaceuticals, Inc, Boston, MA, USA;c Sarepta Therapeutics, Cambridge, MA, USAView further author information
&
Patrick Kleyna Rhythm Pharmaceuticals, Inc, Boston, MA, USACorrespondence[email protected]
View further author information
Pages 209-219 | Received 23 Dec 2022, Accepted 09 Feb 2023, Published online: 02 Mar 2023

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