Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.D76Splc
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TUBA4A

NM_006000.3:p.D76Splc

Associated Papers

TUBA4A: The Tale of an Unconventional Tubulin.

Zhu JL et al.

Cytoskeleton (hoboken, N.j.), 2025

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia.

Mol MO et al.

Neurology. Genetics, 2021

The study of levels from redox-active elements in cerebrospinal fluid of amyotrophic lateral sclerosis patients carrying disease-related gene mutations shows potential copper dyshomeostasis.

Violi F et al.

Metallomics : Integrated Biometal Science, 2020

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.

Perrone F et al.

Neurobiology of Aging, 2017

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

Pensato V et al.

Journal of Neurology, 2015

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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."