COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
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Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26.
Am J Hum Genet. 2021.
PMID: 34450031
Free PMC article.