Varaico: Literature-Extracted Genetic Variants

Gene:TUBB
Variant:p.N52S
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TUBB

NM_178014.4:p.N52S

Associated Papers

[Genetic analysis and prenatal diagnosis of structural brain abnormalities associated with TUBB gene c.155A>G variant].

Liu Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2026

Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals.

Durizot M et al.

Pediatric Neurology, 2025

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1

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

Tantry MSA et al.

Molecular Neurobiology, 2023

Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.

Shah YB et al.

British Journal of Haematology, 2023

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.

Watanabe K et al.

Journal of Human Genetics, 2021

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.

Sferra A et al.

International Journal of Molecular Sciences, 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."