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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USP30

Variant:p.T199N

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USP30

NM_032663.5:p.T199N

hg38:chr12:109072321 C>A

Associated Papers

Mechanism and regulation of the Lys6-selective deubiquitinase USP30.

Gersch M et al.

Nature Structural & Molecular Biology, 2017

28945249 (PubMed )

Supplement: NIHMS75368-supplement-Supplementary_Text_and_Figures.pdf

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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."