Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2A
Variant:p.A248T
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TUBB2A

NM_001069.3:p.A248T

Associated Papers

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.

Tantry MSA et al.

Molecular Neurobiology, 2023

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.

Ragoussis V et al.

Journal of Medical Genetics, 2022

33547136 (PubMed )
Supplement: jmedgenet-2020-107528supp003.pdf

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

Fourel G et al.

Febs Letters, 2020

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