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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRKN

Variant:p.R392G

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PRKN

NM_004562.3:p.R392G

hg38:chr6:161360199 T>C

Associated Papers

Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects.

Oxman E et al.

Human Genetics, 2024

38451291 (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."