Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.T312M
Back to variants list

TUBB2B

NM_178012.5:p.T312M

Associated Papers

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

Tantry MSA et al.

Molecular Neurobiology, 2023

MAPping tubulin mutations.

Cushion TD et al.

Frontiers in Cell and Developmental Biology, 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

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

Guerrini R et al.

European Journal of Human Genetics : Ejhg, 2012

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.

Romaniello R et al.

Developmental Medicine and Child Neurology, 2012

The beta-tubulin gene TUBB2B is involved in a large spectrum of neuronal migration disorders.

Uribe V

Clinical Genetics, 2010

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

Jaglin XH et al.

Nature Genetics, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."