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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRKN

Variant:p.Q252*

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PRKN

NM_004562.3:p.Q252*

hg38:chr6:161785889 G>A

Associated Papers

Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.

Lubbe SJ et al.

Human Molecular Genetics, 2021

33448283 (PubMed )

Supplement: 2020_12_09_monoallelic_v31_hmg_suppl_data_accepted_ddaa273.docx

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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."