Article

<i>COPB2</i> haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

2020-09-15

Abstract excerpt

Coatomer complexes function in the sorting and trafficking of proteins between subcellular organelles. Pathogenic variants in coatomer subunits or associated factors have been reported in multi-systemic disorders, i.e., coatopathies, that can affect the skeletal and central nervous systems. We have identified loss-of-function variants in COPB2 , a component of the coatomer complex I (COPI), in individuals present...

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Literature Corpus work: 243292fb-7a7f-5ca7-b157-09c12928f409
DOI: 10.1101/2020.09.14.297234

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<i>COPB2</i> haploinsufficiency causes a coatopathy with osteoporosis and developmental delayDOI 10.1101/2020.09.14.297234Read

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