Varaico: Literature-Extracted Genetic Variants

Gene:APTX
Variant:p.H228R
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APTX

NM_001195248.2:p.H228R

Associated Papers

Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.

Tumbale P et al.

The Embo Journal, 2018

Human CoQ10 deficiencies.

Quinzii CM et al.

Biofactors (oxford, England), 2008

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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."