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
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
Defining the phenotypical spectrum associated with variants in TUBB2A.
Brock S et al.
Journal of Medical Genetics, 2021
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