Varaico: Literature-Extracted Genetic Variants

Gene:TUBA8
Variant:p.R320W
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TUBA8

NM_018943.3:p.R320W

Associated Papers

Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.

Winzig F et al.

The Journal of Infectious Diseases, 2025

40848267 (PubMed )
Supplement: jiaf448_supplementary_data.zip › Supplementary_table_5_gene_hits_in_WES_analysis.xlsx › Sheet2

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

Liu H et al.

Open Biology, 2024

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

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Al-Hamed MH et al.

Human Genetics, 2022

Exome sequencing and analysis of 454,787 UK Biobank participants.

Backman JD et al.

Nature, 2021

34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM4_ESM.xlsx › ST6
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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."