Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.E417K
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TUBA1A

NM_006009.4:p.E417K

Associated Papers

Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.

Wu J et al.

Orphanet Journal of Rare Diseases, 2024

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 › allTUBA1A_missense

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

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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."