Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2A
Variant:p.V49G
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TUBB2A

NM_001069.3:p.V49G

Associated Papers

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.

Beheshti ST et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.

Di Pasquale G et al.

Frontiers in Cellular Neuroscience, 2025

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

Tantry MSA et al.

Molecular Neurobiology, 2023

Defining the phenotypical spectrum associated with variants in TUBB2A.

Brock S et al.

Journal of Medical Genetics, 2021

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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."