Associated Papers
Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine.
Li X et al.
Npj Genomic Medicine, 2025
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
35181665 (PubMed )
Supplement: 41525_2022_283_MOESM4_ESM.xlsx › Novel_Previously_described_var.
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