Varaico: Literature-Extracted Genetic Variants

Gene:TUBB3
Variant:p.V353M
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TUBB3

NM_006086.4:p.V353M

Associated Papers

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Héron D et al.

Brain : a Journal of Neurology, 2025

40905141 (PubMed )
Supplement: awaf311_supplementary_data.zip › brain-2024-03287-File005.xlsx › Feuil1

Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.

Ikegawa T et al.

Brain & Development, 2025

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.

Tantry MSA et al.

Molecular Neurobiology, 2023

Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Li Z et al.

Clinical and Translational Medicine, 2020

33252848 (PubMed )
Supplement: CTM2-10-e222-s003.xlsx › Sheet1

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."