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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USP30

Variant:p.Q311*

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USP30

NM_032663.5:p.Q311*

hg38:chr12:109082726 C>T

Associated Papers

The mitochondrial deubiquitinase USP30 opposes parkin-mediated mitophagy.

Bingol B et al.

Nature, 2014

24896179 (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."