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Journal of Molecular Medicine
Dharmarajan K, Masoudi FA, Spertus JA, Li SX, Krumholz HM
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Gain-of-function mutation in ACOX1, Mitchell Syndrome: Gain-of-function mutation in peroxisomal acyl-CoA oxidase 1 (ACOX1) is a very rare heterozygous missense variant (p
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
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