Varaico: Literature-Extracted Genetic Variants

Gene:PRKCI
Variant:p.R130H
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PRKCI

NM_002740.6:p.R130H

Associated Papers

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

Robinson K et al.

American Journal of Human Genetics, 2025

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

Robinson K et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Investigation of UTR Variants by Computational Approaches Reveal Their Functional Significance in PRKCI Gene Regulation.

Shah H et al.

Genes, 2023

Impact of deleterious missense PRKCI variants on structural and functional dynamics of protein.

Shah H et al.

Scientific Reports, 2022

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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."