Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine

Xiao Li1,2,3, Mehdi Yeganeh4, Graham Sinclair5

  • 1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.

NPJ Genomic Medicine
|September 29, 2025
PubMed

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