Varaico: Literature-Extracted Genetic Variants

Gene:TUBB1
Variant:p.G360_L361insFs
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TUBB1

NM_030773.4:p.G360_L361insFs

Associated Papers

Post-translational polymodification of β1-tubulin regulates motor protein localisation in platelet production and function.

Khan AO et al.

Haematologica, 2022

Expanding the genetic spectrum of TUBB1-related thrombocytopenia.

Palma-Barqueros V et al.

Blood Advances, 2021

34516618 (PubMed )
Supplement: advancesADV2020004057-suppl1.pdf

A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.

Johnson B et al.

Research and Practice in Thrombosis and Haemostasis, 2018

TUBB1 variants and human platelet traits.

Burley K et al.

Platelets, 2018

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.

Johnson B et al.

Haematologica, 2016

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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."