Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7
Variant:p.D266N
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ATXN7

NM_001377405.1:p.D266N

Associated Papers

Molecular Targets and Therapeutic Strategies in Spinocerebellar Ataxia Type 7.

Niewiadomska-Cimicka A et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2019

Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction.

Guyenet SJ et al.

Human Molecular Genetics, 2015

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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."