Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4A
Variant:p.E249K
Back to variants list

TUBB4A

NM_001289123.2:p.E249K

Associated Papers

Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.

Garg D et al.

Parkinsonism & Related Disorders, 2024

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

Tonduti D et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016

The clinical syndrome of dystonia with anarthria/aphonia.

Ganos C et al.

Parkinsonism & Related Disorders, 2016

Recent advances in the genetics of dystonia.

Xiao J et al.

Current Neurology and Neuroscience Reports, 2014

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."