Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

Bo Yuan, Juanita Neira, Shen Gu, Tamar Harel, Pengfei Liu, Ignacio Briceño, Sarah H. Elsea, Alberto Gómez, Lorraine Potocki, James R. Lupski

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9 Scopus citations

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Biochemistry, Genetics and Molecular Biology

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