Varaico: Literature-Extracted Genetic Variants

Gene:TUBB3
Variant:p.L117P
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TUBB3

NM_006086.4:p.L117P

Associated Papers

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

Tantry MSA et al.

Molecular Neurobiology, 2023

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

Fourel G et al.

Febs Letters, 2020

Distinct effects of tubulin isotype mutations on neurite growth in Caenorhabditis elegans.

Zheng C et al.

Molecular Biology of the Cell, 2017

28835377 (PubMed )
Supplement: supp_E17-06-0424v1_CombinedSupMats.pdf

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

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

Cushion TD et al.

Brain : a Journal of Neurology, 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."