Varaico: Literature-Extracted Genetic Variants

Gene:TUBB3
Variant:p.T399M
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TUBB3

NM_006086.4:p.T399M

Associated Papers

Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model.

Jung-Kc K et al.

Journal of Inherited Metabolic Disease, 2024

iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation.

Tristán-Noguero A et al.

Embo Molecular Medicine, 2023

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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."