Associated Papers
Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2.
Console L et al.
Iubmb Life, 2022
First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations.
Zhao S et al.
Frontiers in Genetics, 2022
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.
Mohseni M et al.
Clinical Genetics, 2021
SLC52A2 mutations cause SCABD2 phenotype: A second report.
Babanejad M et al.
International Journal of Pediatric Otorhinolaryngology, 2018
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