Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4A
Variant:p.D295N
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TUBB4A

NM_006087.4:p.D295N

Associated Papers

Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism.

Ben Jdila M et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023

Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).

Torii T et al.

Neurology International, 2023

DYT-TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review.

Bally JF et al.

Movement Disorders Clinical Practice, 2022

DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.

Bally JF et al.

Neurology, 2021

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ001

DYT-TUBB4A: First Family from India with the Arg2Gly Mutation.

Garg D et al.

Annals of Indian Academy of Neurology, 0

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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."