Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.L407V
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STAT1

NM_007315.4:p.L407V

Associated Papers

Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.

Asano T et al.

Immunological Reviews, 2024

Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.

Arunachalam AK et al.

Journal of Clinical Immunology, 2021

Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel STAT1 Gain-of-Function Mutation.

Erdős M et al.

Frontiers in Immunology, 2020

Chronic Mucocutaneous Candidiasis due to Signal Transducer and Activator of Transcription 1 (STAT 1) Mutation in an Indian Patient - A Case Report.

Balasundaram A et al.

Indian Dermatology Online Journal, 0

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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."