Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4A
Variant:p.G244V
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TUBB4A

NM_006087.4:p.G244V

Associated Papers

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

Fellner A et al.

Scientific Reports, 2022

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

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Hamilton EM et al.

Brain : a Journal of Neurology, 2014

Adult-Onset Dystonia with Late-Onset Epilepsy in TUBB4A-Related Hypomyelinating Leukodystrophy-A New Intermediate Phenotype.

Sarkar P et al.

Annals of Indian Academy of Neurology, 0

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