Varaico: Literature-Extracted Genetic Variants

Gene:TUBB1
Variant:p.V353I
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TUBB1

NM_030773.4:p.V353I

Associated Papers

Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.

Hwang S et al.

Journal of Human Genetics, 2026

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

Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development.

Chen B et al.

Human Reproduction (oxford, England), 2017

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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."