Varaico: Literature-Extracted Genetic Variants

Gene:TUBB3
Variant:p.E410D
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TUBB3

NM_006086.4:p.E410D

Associated Papers

The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.

Smith SC et al.

American Journal of Medical Genetics. Part A, 2020

β-Tubulin mutations that cause severe neuropathies disrupt axonal transport.

Niwa S et al.

The Embo Journal, 2013

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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."