Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.H20insFs
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TTPA

NM_000370.3:p.H20insFs

Associated Papers

Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.

Biglari S et al.

Clinical Genetics, 2025

Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India.

Holla VV et al.

Journal of Movement Disorders, 2024

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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."