Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.V426_D427del1
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SLC19A3

NM_025243.4:p.V426_D427del1

Associated Papers

Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.

Aburezq M et al.

Orphanet Journal of Rare Diseases, 2023

Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.

Wang J et al.

Frontiers in Genetics, 2021

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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."