Varaico: Literature-Extracted Genetic Variants

Gene:TPI1
Variant:p.Q181P
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TPI1

NM_000365.6:p.Q181P

Associated Papers

Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, TPI1R5G.

Figura JR et al.

Genes, 2025

Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency.

VanDemark AP et al.

Disease Models & Mechanisms, 2022

Murine model of triosephosphate isomerase deficiency with anemia and severe neuromuscular dysfunction.

Myers TD et al.

Current Research in Neurobiology, 2022

Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.

Nolan D et al.

Journal of Child Neurology, 2016

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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."