Associated Papers
Atypical phenotypic characteristics, mutation analysis and treatment in a family of riboflavin transporter deficiency caused by SLC52A3 variants.
Li P et al.
Human Molecular Genetics, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
Bosch AM et al.
Orphanet Journal of Rare Diseases, 2012
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
Johnson JO et al.
Brain : a Journal of Neurology, 2012
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