Varaico: Literature-Extracted Genetic Variants

Gene:PRKCD
Variant:p.Q191*
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PRKCD

NM_006254.4:p.Q191*

Associated Papers

Phenotypic Variability in PRKCD: a Review of the Literature.

Jefferson L et al.

Journal of Clinical Immunology, 2023

Compound Heterozygous Mutations in PRKCD Associated with Early-Onset Lupus and Severe and Invasive Infections in Siblings.

Roderick MR et al.

Journal of Clinical Immunology, 2023

Impaired respiratory burst contributes to infections in PKCδ-deficient patients.

Neehus AL et al.

The Journal of Experimental Medicine, 2021

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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."