Varaico: Literature-Extracted Genetic Variants

Gene:TUBB
Variant:p.R262H
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TUBB

NM_178014.4:p.R262H

Associated Papers

Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.

Ikegawa T et al.

Brain & Development, 2025

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

Lu Y et al.

Human Genome Variation, 2017

28791129 (PubMed )
Supplement: hgv201735-s2.pdf

The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.

Chakraborti S et al.

Cytoskeleton (hoboken, N.j.), 2016

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

Ferreira C et al.

American Journal of Medical Genetics. Part A, 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."