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P330: Understanding the Disease Mechanisms and Copy Number Variations at 17p11.2 Locus That Do Not Encompass the Dosage Sensitive RAI1 Gene

Shruti Pande,Christopher Grochowski,Davut Pehlivan, Parneet Kaur, Zain Dardas, Haowei Du, Chelsi Rose,Josephine Wincent, Shalini Jhangiani,Lorraine Potocki, Philip Hastings, Jennifer Posey,Anna Lindstrand, Claudia Carvalho, James Lupski

Genetics in Medicine Open（2025）

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