Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4A
Variant:p.Q424H
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TUBB4A

NM_006087.4:p.Q424H

Associated Papers

Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).

Torii T et al.

Neurology International, 2023

H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects.

Krajka V et al.

Science Advances, 2022

DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.

Bally JF et al.

Neurology, 2021

DYT-TUBB4A: First Family from India with the Arg2Gly Mutation.

Garg D et al.

Annals of Indian Academy of Neurology, 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."