Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.T150I
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TUBA1A

NM_006009.4:p.T150I

Associated Papers

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

Tantry MSA et al.

Molecular Neurobiology, 2023

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

Schröter J et al.

European Journal of Human Genetics : Ejhg, 2022

35017693 (PubMed )
Supplement: 41431_2021_1027_MOESM5_ESM.xlsx › Tabelle1

Two different prenatal imaging cerebral patterns of tubulinopathy.

Cabet S et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Hebebrand M et al.

Orphanet Journal of Rare Diseases, 2019

30744660 (PubMed )
Supplement: 13023_2019_1020_MOESM2_ESM.xlsx › TUBA1A_unique-variants
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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."