Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.M323V
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TUBB2B

NM_178012.5:p.M323V

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

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

Fourel G et al.

Febs Letters, 2020

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Bahi-Buisson N et al.

Brain : a Journal of Neurology, 2014

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."