Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
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DOI: 10.1038/s41431-021-00907-9
Abstract: Skeletal ciliopathies are a group of disorders caused by dysfunction of the cilium, a small signaling organelle present on nearly every vertebrate cell. This group of disorders is marked by genetic and clinical heterogeneity, which… read more here.
Keywords: ciliopathy subgroups; cilium; diagnosis; cilium phenotype ... See more keywords