Varaico: Literature-Extracted Genetic Variants

Gene:PRKCH
Variant:p.R149Q
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PRKCH

NM_006255.5:p.R149Q

Associated Papers

A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer's disease.

Gauron MC et al.

Science Signaling, 2025

Protein kinase C eta enhances Golgi-localized signaling and is associated with Alzheimer's disease using a recessive mode of inheritance.

Gauron MC et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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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."