Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.L407R
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STAT1

NM_007315.4:p.L407R

Associated Papers

A novel STAT1 loss-of-function mutation associated with Mendelian susceptibility to mycobacterial disease.

Ye F et al.

Frontiers in Cellular and Infection Microbiology, 2022

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.

Le Voyer T et al.

Journal of Immunology (baltimore, Md. : 1950), 2021

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

Al-Mousa H et al.

The Journal of Allergy and Clinical Immunology, 2016

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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."