Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.K394N
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TUBA1A

NM_006009.4:p.K394N

Associated Papers

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.

Stutterd CA et al.

Brain Communications, 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 › 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."