Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.L253Q
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TUBB2B

NM_178012.5:p.L253Q

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

Case Report: A case of complex cortical dysplasia with central precocious puberty onset.

Guo C et al.

Frontiers in Pediatrics, 2025

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

Tantry MSA et al.

Molecular Neurobiology, 2023

[Analysis of TUBB2B gene variant in a fetus with complex cortical dysplasia with other brain malformations-7].

Yan L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

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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."