Varaico: Literature-Extracted Genetic Variants

Gene:TUBB1
Variant:p.G146R
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TUBB1

NM_030773.4:p.G146R

Associated Papers

The tubulin code in platelet biogenesis.

Kimmerlin Q et al.

Seminars in Cell & Developmental Biology, 2023

Expanding the genetic spectrum of TUBB1-related thrombocytopenia.

Palma-Barqueros V et al.

Blood Advances, 2021

Identification of novel TUBB1 variants in patients with macrothrombocytopenia.

Çalışkaner ZO et al.

Turkish Journal of Medical Sciences, 2021

Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?

Nurden A

Journal of Blood Medicine, 2021

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia.

Guillet B et al.

Journal of Thrombosis and Haemostasis : Jth, 2019

Inherited disorders of platelet function: selected updates.

Nurden AT et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

Structural impact of pathogenic SNPs on β-tubulin using molecular dynamics study.

Mansoor Hussain UH et al.

Journal of Biomolecular Structure & Dynamics, 0

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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."