Varaico: Literature-Extracted Genetic Variants

Gene:PRKCD
Variant:p.T451Splc
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PRKCD

NM_006254.4:p.T451Splc

Associated Papers

Phenotypic Variability in PRKCD: a Review of the Literature.

Jefferson L et al.

Journal of Clinical Immunology, 2023

Role of RNA Alternative Splicing in T Cell Function and Disease.

Banerjee S et al.

Genes, 2023

37895245 (PubMed )
Supplement: genes-14-01896-s001.zip › Supplementary_Table.xlsx › Supplementary_Table

Protein Kinase C-Delta Defect in Autoimmune Lymphoproliferative Syndrome-Like Disease: First Case from the National Iranian Registry and Review of the Literature.

Sharifinejad N et al.

Immunological Investigations, 2022

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

Protein Kinase C δ: a Gatekeeper of Immune Homeostasis.

Salzer E et al.

Journal of Clinical Immunology, 2016

Impaired microbial killing by neutrophils from patients with protein kinase C delta deficiency.

Szilagyi K et al.

The Journal of Allergy and Clinical Immunology, 2015

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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."