Varaico: Literature-Extracted Genetic Variants

Gene:TUBB3
Variant:p.E421K
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TUBB3

NM_006086.4:p.E421K

Associated Papers

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.

Tantry MSA et al.

Molecular Neurobiology, 2023

TUBB3 and KIF21A in neurodevelopment and disease.

Puri D et al.

Frontiers in Neuroscience, 2023

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

Fourel G et al.

Febs Letters, 2020

Microtubules and neurodevelopmental disease: the movers and the makers.

Breuss M et al.

Advances in Experimental Medicine and Biology, 2014

A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.

Stottmann RW et al.

Human Molecular Genetics, 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."