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Claudia M. B. Carvalho

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Jul 2026

Copy Number Gains at 17p11.2 Sparing RAI1: A Shared Phenotype Pattern.

A variety of genomic rearrangement mechanisms contribute to copy number variations at the 17p11.2 locus driven in part by its complex genomic architecture which is characterized by low copy repeats (LCRs) and other repetitive elements, and genomic variations found in 11 families included simple copy number gains, higher order amplifications, and complex genomic rearrangements.

Christopher M. Grochowski, Shruti A. Pande, Parneet Kaur et al. · 0 citations

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