Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.G143R
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TUBA1A

NM_006009.4:p.G143R

Associated Papers

A Phenotypic Paradigm for Cerebral Palsy Genetics.

Arterbery AS et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646824 (PubMed )
Supplement: media-2.xlsx › Table_S3

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
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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."