Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.K394R
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TUBA1A

NM_006009.4:p.K394R

Associated Papers

The tubulin database: Linking mutations, modifications, ligands and local interactions.

Abbaali I et al.

Plos One, 2023

Cross-talk between CDK4/6 and SMYD2 regulates gene transcription, tubulin methylation, and ciliogenesis.

Li LX et al.

Science Advances, 2020

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
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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."