Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.G246R
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TTPA

NM_000370.3:p.G246R

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

Ataxia with isolated vitamin E deficiency: a treatable neurologic disorder resembling Friedreich's ataxia.

Federico A

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2004

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

Mariotti C et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2004

[Vitamin E deficiency ataxia in a family with possible cardiac involvement].

Lucas-Del-Pozo S et al.

Neurologia, 0

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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."