Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.A302T
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TUBB2B

NM_178012.5:p.A302T

Associated Papers

Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.

Wu J et al.

Orphanet Journal of Rare Diseases, 2024

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

Fourel G et al.

Febs Letters, 2020

Axons get ahead: Insights into axon guidance and congenital cranial dysinnervation disorders.

Chilton JK et al.

Developmental Neurobiology, 2017

Microtubules and neurodevelopmental disease: the movers and the makers.

Breuss M et al.

Advances in Experimental Medicine and Biology, 2014

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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."