Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.A383V
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TUBA1A

NM_006009.4:p.A383V

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

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

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

Zillhardt JL et al.

European Journal of Human Genetics : Ejhg, 2016

Paclitaxel resistance by random mutagenesis of α-tubulin.

Yin S et al.

Cytoskeleton (hoboken, N.j.), 2013

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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."