Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.A120T
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TTPA

NM_000370.3:p.A120T

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 in the Philippines : A case report of two siblings.

Tabuena MD et al.

The Journal of Medical Investigation : Jmi, 2021

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

Ataxia with vitamin e deficiency in norway.

Elkamil A et al.

Journal of Movement Disorders, 2015

Ataxia with vitamin E deficiency in southeast Norway, case report.

Koht J et al.

Acta Neurologica Scandinavica. Supplementum, 2009

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

[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."