Varaico: Literature-Extracted Genetic Variants

Gene:TMEM240
Variant:p.R171W
Back to variants list

TMEM240

NM_001114748.2:p.R171W

Associated Papers

Spinocerebellar ataxias (SCAs) caused by common mutations.

Müller U

Neurogenetics, 2021

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.

Traschütz A et al.

Parkinsonism & Related Disorders, 2019

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

Delplanque J et al.

Brain : a Journal of Neurology, 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."