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Published in 2021 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2021.08.001
Abstract: Copy-number variations (CNVs) are a common cause of congenital limb malformations and are interpreted primarily on the basis of their effect on gene dosage. However, recent studies show that CNVs also influence the 3D genome…
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Keywords:
associated femoral;
femoral hypoplasia;
position;
gene dosage ... See more keywords