Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4B
Variant:p.E410K
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TUBB4B

NM_006088.6:p.E410K

Associated Papers

A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.

Cao LY et al.

Ophthalmic Genetics, 2025

Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.

Fourel G et al.

Febs Letters, 2020

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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."