Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.E415K
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TUBA4A

NM_006000.3:p.E415K

Associated Papers

Missense variants in TUBA4A cause myo-tubulinopathies.

Johari M et al.

Brain : a Journal of Neurology, 2026

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.

Wu G et al.

Translational Neurodegeneration, 2025

41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2c_predicted_DM_URVs

TUBA4A: The Tale of an Unconventional Tubulin.

Zhu JL et al.

Cytoskeleton (hoboken, N.j.), 2025

Missense variants in TUBA4A cause myo-tubulinopathies.

Johari M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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

Benkirane M et al.

Brain : a Journal of Neurology, 2024

Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation.

Wan Y et al.

Journal of Medical Genetics, 2024

A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.

Torella A et al.

Journal of Neurology, 2023

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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."