Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CD
Variant:p.R517Q
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PIK3CD

NM_005026.5:p.R517Q

Associated Papers

Clinical and genetic findings of individuals tested using the navigateAPDS genetic testing program.

Campbell E et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2026

A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis.

Aba Ü et al.

Journal of Clinical Immunology, 2024

38270687 (PubMed )
Supplement: 10875_2024_1658_MOESM1_ESM.pdf
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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."