Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4A
Variant:p.Q245L
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TUBB4A

NM_006087.4:p.Q245L

Associated Papers

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.

Gavazzi F et al.

Molecular Genetics and Metabolism, 2025

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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."