Varaico: Literature-Extracted Genetic Variants

Gene:TUBB3
Variant:p.E421D
Back to variants list

TUBB3

NM_006086.4:p.E421D

Associated Papers

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.

Tantry MSA et al.

Molecular Neurobiology, 2023

TUBB3 and KIF21A in neurodevelopment and disease.

Puri D et al.

Frontiers in Neuroscience, 2023

TUBB3 M323V Syndrome Presents with Infantile Nystagmus.

Jin S et al.

Genes, 2021

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles.

Thomas MG et al.

International Journal of Molecular Sciences, 2021

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.

Dentici ML et al.

American Journal of Medical Genetics. Part A, 2020

Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant.

Thomas MG et al.

The British Journal of Ophthalmology, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."