Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.C4delFs
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SETX

NM_015046.7:p.C4delFs

Associated Papers

Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene.

Rana AQ et al.

Annals of Indian Academy of Neurology, 2013

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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."