Articles with "identified compound" as a keyword



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Whole‐exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome

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Published in 2019 at "Journal of Clinical Laboratory Analysis"

DOI: 10.1002/jcla.23074

Abstract: Autosomal recessive Robinow syndrome (ARRS) is a rare genetic disorder, which affects the development of multiple systems, particularly the bones. read more here.

Keywords: exome sequencing; identified compound; whole exome; sequencing identified ... See more keywords