Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A6
Variant:p.Q622fs
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SLC5A6

NM_021095.4:p.Q622fs

Associated Papers

Prenatal Brain Abnormalities in Sodium-Dependent Multivitamin Transporter Deficiency.

Ogawa E et al.

American Journal of Medical Genetics. Part A, 2025

Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency.

Walimbe AS et al.

American Journal of Medical Genetics. Part A, 2025

Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.

Schwantje M et al.

Jimd Reports, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."