Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.K344Q
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STAT1

NM_007315.4:p.K344Q

Associated Papers

Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.

Staines-Boone AT et al.

Journal of Clinical Immunology, 2023

Practical challenges for functional validation of STAT1 gain of function genetic variants.

Albuquerque AS et al.

Clinical and Experimental Immunology, 2023

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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."