Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.L240L
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TUBB2B

NM_178012.5:p.L240L

Associated Papers

Maternal Germline Mosaicism of a de Novo TUBB2B Mutation Leads to Complex Cortical Dysplasia in Two Siblings.

Çitli Ş et al.

Fetal and Pediatric Pathology, 2022

Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development

Aksel Kiliçarslan Ö et al.

Turkish Journal of Medical Sciences, 2020

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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."