Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CD
Variant:p.Q170fs
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PIK3CD

NM_005026.5:p.Q170fs

Associated Papers

Homozygous Loss of Function PIK3CD Mutation in Multiple Siblings Leading To B Cell Dysregulation and Autoimmunity.

Alajlan H et al.

Journal of Clinical Immunology, 2025

Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ.

Swan DJ et al.

Haematologica, 2019

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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."