Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
77,184 个外显子组中单基因代谢条件下渗透率和变异表现度的决定因素
期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-021-23556-4
Julia K Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Eleina England, Joanne B Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A Maloney, Andy Dahl, Carlos A Aguilar-Salinas, Gil Atzmon, Francisco Barajas-
