Varaico: Literature-Extracted Genetic Variants

Gene:TPK1
Variant:p.R60fs
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TPK1

NM_022445.4:p.R60fs

Associated Papers

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.

Banka S et al.

Molecular Genetics and Metabolism, 2014

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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."