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Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas.

Human mutation - 1 Aug 2015

Su Peiqiang, Wang Ye, Cooper David N, Zhu Wenjuan, Huang Dongsheng, Férec Claude, Wang Yiming, Chen Jian-Min

Abstract excerpt

The additional mutational complexity associated with copy number variation (CNV) can provide important clues as to the underlying mechanisms of CNV formation. Correct annotation of the additional mutational complexity is, however, a prerequisite for establishing the mutational mechanism. We illustrate this point through the characterization of a novel ∼230 kb EXT1 duplication CNV causing autosomal dominant...

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PMID: 25990786
DOI: 10.1002/humu.22815

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EXT1

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