Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4A
Variant:p.T178R
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TUBB4A

NM_006087.4:p.T178R

Associated Papers

Impact of HLD6-associated TUBB4A mutant proteins on cell morphogenesis.

Kasamatsu Y et al.

Bmc Research Notes, 2025

Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.

Ikegawa T et al.

Brain & Development, 2025

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

Gavazzi F et al.

Molecular Genetics and Metabolism, 2025

In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.

Fellner A et al.

Scientific Reports, 2022

Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings.

Joyal KM et al.

Journal of Neuropathology and Experimental Neurology, 2019

The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.

Chakraborti S et al.

Cytoskeleton (hoboken, N.j.), 2016

TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.

Carvalho D et al.

Brain : a Journal of Neurology, 2015

Neurodegeneration and microtubule dynamics: death by a thousand cuts.

Dubey J et al.

Frontiers in Cellular Neuroscience, 2015

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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."