Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.M299V
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TUBB2B

NM_178012.5:p.M299V

Associated Papers

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

Akula SK et al.

Jama Neurology, 2023

37486637 (PubMed )
Supplement: jamaneurol-e232363-s002.xlsx › All_-_AlphaGene

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

Tantry MSA et al.

Molecular Neurobiology, 2023

Dynamics of TUBB protein with five majorly occurring natural variants: a risk of cortical dysplasia.

Janakiraman V et al.

Journal of Molecular Modeling, 2023

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Bahi-Buisson N et al.

Brain : a Journal of Neurology, 2014

Microtubules and neurodevelopmental disease: the movers and the makers.

Breuss M et al.

Advances in Experimental Medicine and Biology, 2014

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

Breuss M et al.

Cell Reports, 2012

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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."