Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4A
Variant:p.C239F
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TUBB4A

NM_006087.4:p.C239F

Associated Papers

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

Fellner A et al.

Scientific Reports, 2022

Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.

Fourel G et al.

Febs Letters, 2020

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

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

Ferreira C et al.

American Journal of Medical Genetics. Part A, 2014

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

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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."