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bibliographicCitation Fonseca H, Azevedo L, Serrano C, Sousa C, Marcão A, Vilarinho L. 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. Gene. 2016 Dec 15;594(2):203–10. doi: 10.1016/j.gene.2016.09.003. PMID: 27601257.
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title 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening
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