Varaico: Literature-Extracted Genetic Variants

Gene:TUBB3
Variant:p.S230L
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TUBB3

NM_006086.4:p.S230L

Associated Papers

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

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Dawidziuk M et al.

Genes, 2021

34946966 (PubMed )
Supplement: genes-12-02014-s001.zip › Supplementary_Table_S1_Patients_details.xlsx › Patients

TUBB3 M323V Syndrome Presents with Infantile Nystagmus.

Jin S et al.

Genes, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.

Dentici ML et al.

American Journal of Medical Genetics. Part A, 2020

A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.

Shimojima K et al.

American Journal of Medical Genetics. Part A, 2016

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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."