Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.S924P
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ALPK1

NM_025144.4:p.S924P

Associated Papers

IFN-γ licenses normal and pathogenic ALPK1/TIFA pathway in human monocytes.

Martin A et al.

Iscience, 2025

ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal Dysplasia and Progressive Vision Loss.

Jamilloux Y et al.

Journal of Clinical Immunology, 2021

Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.

Sangiorgi E et al.

European Journal of Human Genetics : Ejhg, 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."