Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.R320H
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TUBA4A

NM_006000.3:p.R320H

Associated Papers

TUBA4A: The Tale of an Unconventional Tubulin.

Zhu JL et al.

Cytoskeleton (hoboken, N.j.), 2025

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Benkirane M et al.

Brain : a Journal of Neurology, 2024

Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.

Luan T et al.

Neuroscience Bulletin, 2024

Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.

Burr R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808694 (PubMed )
Supplement: media-2.xlsx › Patient_10

Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.

Li Q et al.

Genome Biology, 2023

In silico analysis of TUBA4A mutations in Amyotrophic Lateral Sclerosis to define mechanisms of microtubule disintegration.

Ganne A et al.

Scientific Reports, 2023

Multiple roles for the cytoskeleton in ALS.

Liu X et al.

Experimental Neurology, 2022

Destination Amyotrophic Lateral Sclerosis.

Keon M et al.

Frontiers in Neurology, 2021

33854469 (PubMed )
Supplement: Table_1.XLSX › Genes

Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.

Fourel G et al.

Febs Letters, 2020

TUBA4A may not be a significant genetic factor in Chinese ALS patients.

Li J et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2015

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Smith BN et al.

Neuron, 2014

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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."