Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.N247S
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TUBB2B

NM_178012.5:p.N247S

Associated Papers

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

Tantry MSA et al.

Molecular Neurobiology, 2023

Genetics and mechanisms leading to human cortical malformations.

Romero DM et al.

Seminars in Cell & Developmental Biology, 2018

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.

Breuss MW et al.

Human Molecular Genetics, 2017

The Expression of Tubb2b Undergoes a Developmental Transition in Murine Cortical Neurons.

Breuss M et al.

The Journal of Comparative Neurology, 2015

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.

Cushion TD et al.

American Journal of Human Genetics, 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."