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[DOI] [PMC free article] [PubMed] [Google Scholar] 59.Poblocki J, Panka T, Szczuko M, Telesinski A, Syrenicz A
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
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