Varaico: Literature-Extracted Genetic Variants

Gene:TUBB
Variant:p.R309G
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TUBB

NM_178014.4:p.R309G

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

Clinical variability of TUBB-associated disorders: Diagnosis through reanalysis.

Li D et al.

American Journal of Medical Genetics. Part A, 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."