Varaico: Literature-Extracted Genetic Variants

Gene:APTX
Variant:p.S265R
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APTX

NM_001195248.2:p.S265R

Associated Papers

Unique Patient with Ataxia with Oculomotor Apraxia Type 1: A Novel Homozygous Variant in APTX Gene and Delayed Onset Age.

Sun Z et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025

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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."