Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.K265delFs
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TTPA

NM_000370.3:p.K265delFs

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

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.

Shakya S et al.

Clinical Genetics, 2019

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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."