Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.R380C
Back to variants list

TUBB2B

NM_178012.5:p.R380C

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

Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.

Fourel G et al.

Febs Letters, 2020

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

Romaniello R et al.

European Radiology, 2017

Microtubules and neurodevelopmental disease: the movers and the makers.

Breuss M et al.

Advances in Experimental Medicine and Biology, 2014

A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.

Stottmann RW et al.

Human Molecular Genetics, 2013

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

Cushion TD et al.

Brain : a Journal of Neurology, 2013

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."