Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.W163delFs
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TTPA

NM_000370.3:p.W163delFs

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 Vitamin E Deficiency May Present with Cervical Dystonia.

Becker AE et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2016

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.

Fernández-Burriel M et al.

Pediatric Research, 2008

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

Ataxia with vitamin E deficiency and severe dystonia: report of a case.

Roubertie A et al.

Brain & Development, 2003

Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.

Benomar A et al.

Journal of the Neurological Sciences, 2002

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

Cavalier L et al.

American Journal of Human Genetics, 1998

[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."