Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.E288K
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TUBB2B

NM_178012.5:p.E288K

Associated Papers

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.

Hu J et al.

Biomedicines, 2026

41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

Mancini C et al.

Genes, 2025

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

Tantry MSA et al.

Molecular Neurobiology, 2023

De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR.

Wang H et al.

Fetal and Pediatric Pathology, 2019

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

Romaniello R et al.

European Radiology, 2017

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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."