Varaico: Literature-Extracted Genetic Variants

Gene:PRKCD
Variant:p.N431_G432insFs
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PRKCD

NM_006254.4:p.N431_G432insFs

Associated Papers

Phenotypic Variability in PRKCD: a Review of the Literature.

Jefferson L et al.

Journal of Clinical Immunology, 2023

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

Sirolimus is effective in autoimmune lymphoproliferative syndrome-type III: A pedigree case report with homozygous variation PRKCD.

Gu H et al.

International Journal of Immunopathology and Pharmacology, 0

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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."