High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
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DOI: 10.1038/s10038-021-00925-x
Abstract: Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins,… read more here.
Keywords: massively parallel; variant; using massively; yield ... See more keywords