Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.C200Y
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TUBA1A

NM_006009.4:p.C200Y

Associated Papers

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.

Tantry MSA et al.

Molecular Neurobiology, 2023

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

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

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 › TUBA1A_unique-variants

The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.

Aiken J et al.

Journal of Developmental Biology, 2017

A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

Hikita N et al.

Brain & Development, 2014

Microtubules and neurodevelopmental disease: the movers and the makers.

Breuss M et al.

Advances in Experimental Medicine and Biology, 2014

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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."