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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRKCSH

Variant:p.R124delFs

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PRKCSH

NM_001289104.2:p.R124delFs

hg38:chr19:11441259 AG>A

Associated Papers

Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum.

Boerrigter MM et al.

Genes, 2023

37628703 (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."