Varaico: Literature-Extracted Genetic Variants

Gene:TUBB1
Variant:p.T107P
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TUBB1

NM_030773.4:p.T107P

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

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL

TUBB1 variants and human platelet traits.

Burley K et al.

Platelets, 2018

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Bastida JM et al.

Haematologica, 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."