Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2A
Variant:p.P357L
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TUBB2A

NM_001069.3:p.P357L

Associated Papers

Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.

Ikegawa T et al.

Brain & Development, 2025

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.

Kooshavar D et al.

Brain Communications, 2024

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."