Varaico: Literature-Extracted Genetic Variants

Gene:ALPK2
Variant:p.S472R
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ALPK2

NM_052947.4:p.S472R

Associated Papers

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.

Saettini F et al.

Journal of Clinical Immunology, 2024

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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."