COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

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Authors: Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp

Journal title: Am J Hum Genet.

Journal number: 00029297

Journal publisher: University of Chicago Press

Published year: 2021

DOI identifier: 10.1016/j.ajhg.2021.08.002

ISSN: 0002-9297