Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.I202T
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TUBB2B

NM_178012.5:p.I202T

Associated Papers

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.

Beheshti ST et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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

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

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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."