Varaico: Literature-Extracted Genetic Variants

Gene:TPK1
Variant:p.T56I
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TPK1

NM_022445.4:p.T56I

Associated Papers

The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment.

Dallan A et al.

Orphanet Journal of Rare Diseases, 2025

Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review.

Zhao D et al.

Frontiers in Pediatrics, 2023

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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."