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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPIA

Variant:p.R199Splc

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RPIA

NM_144563.3:p.R199Splc

hg38:chr2:88735740 A>G

Associated Papers

Automatized detection of uniparental disomies in a large cohort.

Moch J et al.

Human Genetics, 2024

39012485 (PubMed )

Supplement: 439_2024_2687_MOESM2_ESM.xlsx › UPD_findings_Overview

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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."