Tag

copy number variations

11
Oct

Syndromes hidden within the 16p11.2 deletion region

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16p11.2 is a region of chromosome 16 particularly prone to deletions and duplications. Copy number variations (CNVs) are defined as specific regions within a chromosome that are either deleted or duplicated. CNVs can either be inherited or can occur spontaneously in patients during development. The effects of CNVs are difficult...
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