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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USP30

Variant:p.A46P

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USP30

NM_032663.5:p.A46P

hg38:chr12:109056734 G>C

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

39809929 (PubMed )

Mechanisms of mitophagy: PINK1, Parkin, USP30 and beyond.

Bingol B et al.

Free Radical Biology & Medicine, 2016

27094585 (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."