Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.K388R
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STAT1

NM_007315.4:p.K388R

Associated Papers

Precision T cell correction platform for inborn errors of immunity.

Mamia K et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.

Buddingh EP et al.

Journal of Human Immunity, 2025

A Norwegian cohort with STAT1-related disease - further expanding the clinical phenotype.

Martinsen KHB et al.

Frontiers in Immunology, 2025

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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."