Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.R156H
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TUBA1A

NM_006009.4:p.R156H

Associated Papers

Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management.

Xia W et al.

Children (basel, Switzerland), 2022

Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.

Jurgens JA et al.

European Journal of Human Genetics : Ejhg, 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."