Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.R378G
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STAT1

NM_007315.4:p.R378G

Associated Papers

Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.

Ono R et al.

Journal of Clinical Immunology, 2023

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

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

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.

Das J et al.

Expert Review of Clinical Immunology, 2021

Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.

Zhang W et al.

Frontiers in Immunology, 2021

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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."