Varaico: Literature-Extracted Genetic Variants

Gene:APTX
Variant:p.K214M
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APTX

NM_001195248.2:p.K214M

Associated Papers

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.

Nouri N et al.

Iranian Biomedical Journal, 2012

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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."