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Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approach by Helen Ye Rim Huang, Cecilia Vitali, David Zhang, Nicholas J. Hand, Michael C. Phillips, Kate Townsend Creasy, Eleonora Scorletti, Joseph Park, Regeneron Centre, Kai Markus Schneider, Daniel J. Rader, Carolin Victoria Schneider
Published 2025-01-01
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A missense variant in human perilipin 2 (PLIN2 Ser251Pro) reduces hepatic steatosis in mice by Eleonora Scorletti, Yedidya Saiman, Sookyoung Jeon, Carolin V. Schneider, Delfin G. Buyco, Chelsea Lin, Blanca E. Himes, Clementina A. Mesaros, Marijana Vujkovic, Kate Townsend Creasy, Emma E. Furth, Jeffrey T. Billheimer, Nicholas J. Hand, David E. Kaplan, Kyong-Mi Chang, Philip S. Tsao, Julie A. Lynch, Joseph L. Dempsey, Julia Harkin, Susovon Bayen, Donna Conlon, Marie Guerraty, Michael C. Phillips, Daniel J. Rader, Rotonya M. Carr
Published 2024-01-01
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