Varaico: Literature-Extracted Genetic Variants

Gene:TUBB3
Variant:p.S172P
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TUBB3

NM_006086.4:p.S172P

Associated Papers

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

A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.

Stottmann RW et al.

Human Molecular Genetics, 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."