Associated Papers
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
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg.
Schmidt L et al.
Molecular Syndromology, 2021
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
Cai S et al.
Journal of Human Genetics, 2020
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
Ejaz R et al.
American Journal of Medical Genetics. Part A, 2017
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