Varaico: Literature-Extracted Genetic Variants

Gene:PRKCD
Variant:p.G432W
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PRKCD

NM_006254.4:p.G432W

Associated Papers

Missense variants in PRKCD: elucidating their potential association with breast cancer.

Zafar S et al.

Breast Cancer Research : Bcr, 2025

40722182 (PubMed )
Supplement: 13058_2025_2090_MOESM1_ESM.pdf

Phenotypic Variability in PRKCD: a Review of the Literature.

Jefferson L 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

Successful use of ofatumumab in two cases of early-onset juvenile SLE with thrombocytopenia caused by a mutation in protein kinase C δ.

Lei L et al.

Pediatric Rheumatology Online Journal, 2018

Early-Onset Juvenile SLE Associated With a Novel Mutation in Protein Kinase C δ.

Nanthapisal S et al.

Pediatrics, 2017

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Omoyinmi E et al.

Plos One, 2017

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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."