Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.R262C
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TUBB2B

NM_178012.5:p.R262C

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 and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.

Wu J et al.

Orphanet Journal of Rare Diseases, 2024

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.

Breuss MW et al.

Human Molecular Genetics, 2017

Microtubules and neurodevelopmental disease: the movers and the makers.

Breuss M et al.

Advances in Experimental Medicine and Biology, 2014

The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.

Graeber CP et al.

Seminars in Ophthalmology, 0

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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."