Varaico: Literature-Extracted Genetic Variants

Gene:BBOX1
Variant:p.F110insFs
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BBOX1

NM_003986.3:p.F110insFs

Associated Papers

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

Li X et al.

Npj Genomic Medicine, 2025

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

Doucette LP et al.

European Journal of Human Genetics : Ejhg, 2021

33776059 (PubMed )
Supplement: 41431_2021_872_MOESM2_ESM.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."