Varaico: Literature-Extracted Genetic Variants

Gene:TUBA8
Variant:p.R243C
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TUBA8

NM_018943.3:p.R243C

Associated Papers

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

Liu H et al.

Open Biology, 2024

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed

Mutations in the most divergent α-tubulin isotype, α8-tubulin, cause defective platelet biogenesis.

Kimmerlin Q et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

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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."