Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.V181M
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TUBA4A

NM_006000.3:p.V181M

Associated Papers

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

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.

Stump AL et al.

Biomolecules, 2023

The tubulin code in platelet biogenesis.

Kimmerlin Q et al.

Seminars in Cell & Developmental Biology, 2023

Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.

Chen YP et al.

Journal of Medical Genetics, 2022

34544842 (PubMed )
Supplement: jmedgenet-2021-107965supp002.pdf

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

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.

Orme T et al.

Acta Neuropathologica Communications, 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."