Associated Papers
A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review.
Cappozzo F et al.
Molecular Genetics and Metabolism Reports, 2025
Base editing corrects the common Salla disease SLC17A5 c.115C>T variant.
Harb JF et al.
Molecular Therapy. Nucleic Acids, 2023
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