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

Ronit Marom, Lindsay C. Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco‐Sánchez, Mahim Jain, Daryl A. Scott, Jill A. Rosenfeld, V. Reid Sutton, Marwan Shinawi, Ghayda Mirzaa, Catherine DeVile, Rowenna Roberts, Alistair Calder, Jeremy Allgrove, Ingo Grafe, Denise G. Lanza, Xiaohui Li, Kyu Sang Joeng, Yi‐Chien Lee, I-Wen Song, Joseph M. Sliepka, Dominyka Batkovskyte, Megan Washington, Brian C. Dawson, Zixue Jin, Ming‐Ming Jiang, Shan Chen, Yuqing Chen, Alyssa A. Tran, Lisa Emrick, David R. Murdock, Neil A. Hanchard, Gladys Zapata, Nitesh R. Mehta, Mary Ann Weis, Abbey Scott, Brenna A. Tremp, Jennifer B. Phillips, Jeremy Wegner, Tashunka Taylor‐Miller, Richard A. Gibbs, Donna M. Muzny, Shalini N. Jhangiani, John Hicks, Rolf W. Stottmann, Mary E. Dickinson, John R. Seavitt, Jason D. Heaney, David R. Eyre, Monte Westerfield, Maria Antonietta De Matteis, Brendan Lee

2021The American Journal of Human Genetics41 citationsDOIOpen Access PDF

Topics & Concepts

Golgi apparatusCell biologyEndoplasmic reticulumHaploinsufficiencyCOPIBiologyZebrafishSecretionPhenotypeEndocrinologySecretory pathwayGeneticsGeneConnective tissue disorders researchS100 Proteins and AnnexinsNuclear Structure and Function
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay | Litcius