Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2A
Variant:p.S172P
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TUBB2A

NM_001069.3:p.S172P

Associated Papers

Pervasive mislocalization of pathogenic coding variants underlying human disorders.

Lacoste J et al.

Cell, 2024

Pervasive mislocalization of pathogenic coding variants underlying human disorders.

Lacoste J et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Tantry MSA et al.

Molecular Neurobiology, 2023

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

Fourel G et al.

Febs Letters, 2020

Distinct effects of tubulin isotype mutations on neurite growth in Caenorhabditis elegans.

Zheng C et al.

Molecular Biology of the Cell, 2017

β-Tubulin mutations that cause severe neuropathies disrupt axonal transport.

Niwa S et al.

The Embo Journal, 2013

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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."