Varaico: Literature-Extracted Genetic Variants

Gene:TUBB
Variant:p.M73T
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TUBB

NM_178014.4:p.M73T

Associated Papers

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

Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type.

Chun Fang G et al.

Molecular Genetics & Genomic Medicine, 2022

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

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Dentici ML et al.

Clinical Genetics, 2018

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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."