Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.Y408D
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TUBA1A

NM_006009.4:p.Y408D

Associated Papers

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

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC et al.

Nature Genetics, 2020

Insights From Genetic Studies of Cerebral Palsy.

Lewis SA et al.

Frontiers in Neurology, 2020

33551980 (PubMed )
Supplement: Table_1.XLSX › variants

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."