Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.C997delFs
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SETX

NM_015046.7:p.C997delFs

Associated Papers

Biallelic Mutation of SETX and Additional Likely "In Cis" SETX Sequence Change in Ataxia with Oculomotor Apraxia Type 2.

Perry MD et al.

Journal of Pediatric Genetics, 2021

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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."