Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.D417E
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TUBB2B

NM_178012.5:p.D417E

Associated Papers

Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.

El Ghaleb Y et al.

Plos Genetics, 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."