Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.A403T
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TUBA1A

NM_006009.4:p.A403T

Associated Papers

Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.

Attard TJ et al.

Plos Computational Biology, 2022

36206299 (PubMed )
Supplement: pcbi.1010611.s002.xlsx › gnomAD

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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