Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.D177V
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TUBB2B

NM_178012.5:p.D177V

Associated Papers

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.

Beheshti ST et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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

A novel family illustrating the mild phenotypic spectrum of TUBB2B variants.

Dekker J et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 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."