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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

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author: Allan Linneberg  Jianjun Liu  Niels Grarup  Josée Dupuis  Ronald Ching Wan Ma  Federico Centeno  Claudia Schurmann  Brian Tomlinson  Russell P Tracy  Young Jin Kim  Adolfo Correa  P M Nilsson  Heikki A. Koistinen  Jong-Young Lee  Claudia Ha Ting Tam  Markku Laakso  Oluf Borbye Pedersen  Humberto García-Ortiz  Josep Maria Mercader  Joanne B Cole  Lorena Orozco  Christopher J O'Donnell  Miriam S Udler  Kristin A Maloney  Gil Atzmon  John Blangero  Anne H O'Donnell-Luria  Kyong Soo Park  Xueling Sim  Ruth J. Loos  Daniel G. MacArthur  Andy Dahl  Michael Boehnke  Tiinamaija Tuomi  Robert Sladek  Ramachandran S. Vasan  Colin Palmer  Benjamin Glaser  Michael Preuss  Leif Groop  Kerrin S. Small  Torben Hansen  Karen L Mohlke  Jerome I Rotter  Nancy L Heard-Costa  Tim Spector 

Publication date June 9, 2021
Language English
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