Associated Papers
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
Utsuno Y et al.
Journal of Human Genetics, 2024
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.
Montomoli M et al.
European Journal of Medical Genetics, 2023
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