Varaico: Literature-Extracted Genetic Variants

Gene:TMEM240
Variant:p.R116C
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TMEM240

NM_001114748.2:p.R116C

Associated Papers

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM

Spinocerebellar ataxias (SCAs) caused by common mutations.

Müller U

Neurogenetics, 2021

Therapeutic potential of d-cysteine against in vitro and in vivo models of spinocerebellar ataxia.

Ohta T et al.

Experimental Neurology, 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

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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."