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P011: Marked Phenotypic Heterogeneity Associated with a Heterozygous Pathogenic Variant in the Acetyl-Coa Acyltransferase 2 Gene

Mary LoPiccolo,Colleen Donnelly,Vinaya Simha, Anna Platt, Alexis Carere, Rebecca Brown, Matthew Snyder,Chao Xing,Abhimanyu Garg

Genetics in Medicine Open(2025)

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