Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.H236delFs
Back to variants list

TTPA

NM_000370.3:p.H236delFs

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 due to vitamin E deficiency: A case report and updated review.

Thapa S et al.

Clinical Case Reports, 2022

A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia.

Bonello M et al.

Case Reports in Neurological Medicine, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."