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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SETX

Variant:p.H793delFs

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SETX

NM_015046.7:p.H793delFs

hg38:chr9:132329219 AT>A

Associated Papers

Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).

Arning L et al.

Neurogenetics, 2008

18663494 (PubMed )

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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."