Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A1
Variant:p.Q70*
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SLC52A1

NM_017986.4:p.Q70*

Associated Papers

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3

Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52.

Yonezawa A et al.

Molecular Aspects of Medicine, 0

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