Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.A302V
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TUBB2B

NM_178012.5:p.A302V

Associated Papers

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

Mancini C et al.

Genes, 2025

Epistatic, synthetic, and balancing interactions among tubulin missense mutations affecting neurite growth in Caenorhabditis elegans.

Lee HMT et al.

Molecular Biology of the Cell, 2021

Axons get ahead: Insights into axon guidance and congenital cranial dysinnervation disorders.

Chilton JK et al.

Developmental Neurobiology, 2017

Microtubules and neurodevelopmental disease: the movers and the makers.

Breuss M et al.

Advances in Experimental Medicine and Biology, 2014

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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."