Varaico: Literature-Extracted Genetic Variants

Gene:TUBB1
Variant:p.C12fs
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TUBB1

NM_030773.4:p.C12fs

Associated Papers

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

Shah YB et al.

British Journal of Haematology, 2023

Expanding the genetic spectrum of TUBB1-related thrombocytopenia.

Palma-Barqueros V et al.

Blood Advances, 2021

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.

Stoupa A et al.

Embo Molecular Medicine, 2018

TUBB1 variants and human platelet traits.

Burley K et al.

Platelets, 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."