Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome

Angela E. Lin, Abdulrazak Alali, Lois J. Starr, Nidhi Shah, Anna Beavis, Elaine M. Pereira, Mark E. Lindsay, Susan Klugman

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology

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