Varaico: Literature-Extracted Genetic Variants

Gene:TUBB3
Variant:p.T312M
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TUBB3

NM_006086.4:p.T312M

Associated Papers

Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies.

Libzon S et al.

Developmental Medicine and Child Neurology, 2025

Clinical variants paired with phenotype: A rich resource for brain gene curation.

Chopra M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants

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

Congenital Mirror Movements Associated With Brain Malformations.

Nissenkorn A et al.

Journal of Child Neurology, 2021

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

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."