Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.P357L
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TUBB2B

NM_178012.5:p.P357L

Associated Papers

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

Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.

Ikegawa T et al.

Brain & Development, 2025

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.

Thompson L et al.

Frontiers in Pediatrics, 2024

38440187 (PubMed )
Supplement: Table3.xlsx › Sheet1

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

Tantry MSA et al.

Molecular Neurobiology, 2023

Two different prenatal imaging cerebral patterns of tubulinopathy.

Cabet S et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021

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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."