Varaico: Literature-Extracted Genetic Variants

Gene:TUBB1
Variant:p.D249N
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TUBB1

NM_030773.4:p.D249N

Associated Papers

A circle of life: platelet and megakaryocyte cytoskeleton dynamics in health and disease.

Liu H et al.

Open Biology, 2024

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 novel TUBB1 variants in patients with macrothrombocytopenia.

Çalışkaner ZO et al.

Turkish Journal of Medical Sciences, 2021

The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.

Chakraborti S et al.

Cytoskeleton (hoboken, N.j.), 2016

TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia.

Kunishima S et al.

European Journal of Haematology, 2014

Lessons in platelet production from inherited thrombocytopenias.

Pecci A et al.

British Journal of Haematology, 2014

Genetics of familial forms of thrombocytopenia.

Balduini CL et al.

Human Genetics, 2012

Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.

Kunishima S et al.

Blood, 2009

Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systems.

Bauer TR et al.

Ilar Journal, 2009

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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."