Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.E183Q
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TUBA4A

NM_006000.3:p.E183Q

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

TUBA4A: The Tale of an Unconventional Tubulin.

Zhu JL et al.

Cytoskeleton (hoboken, N.j.), 2025

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

Liu H et al.

Open Biology, 2024

The tubulin code in platelet biogenesis.

Kimmerlin Q et al.

Seminars in Cell & Developmental Biology, 2023

Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.

Guéguen P et al.

Transfusion, 2020

An essential role for α4A-tubulin in platelet biogenesis.

Strassel C et al.

Life Science Alliance, 2019

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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."