Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4A
Variant:p.A314V
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TUBB4A

NM_006087.4:p.A314V

Associated Papers

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

Fellner A et al.

Scientific Reports, 2022

A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited.

Erro R et al.

Brain : a Journal of Neurology, 2015

Reply: A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited.

Hamilton EM et al.

Brain : a Journal of Neurology, 2015

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

Erro R et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

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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