Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4A
Variant:p.R262P
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TUBB4A

NM_006087.4:p.R262P

Associated Papers

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.

Gavazzi F et al.

Molecular Genetics and Metabolism, 2025

Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.

Garg D et al.

Parkinsonism & Related Disorders, 2024

Novel TUBB4A mutation in a family with hereditary spastic paraplegia.

Lv D et al.

Acta Neurologica Belgica, 2023

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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."