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Integrating Artificial Intelligence and Bioinformatics Methods to Identify Disruptive STAT1 Variants Impacting Protein Stability and Function

1 Mar 2025

Abstract excerpt

Background: The Signal Transducer and Activator of Transcription 1 (STAT1) gene is an essential component of the JAK-STAT signaling pathway. This pathway plays a pivotal role in the regulation of different cellular processes, including immune responses, cell growth, and apoptosis. Mutations in the STAT1 gene contribute to a variety of immune system dysfunctions. Objectives: We aim to identify disease-susceptible...

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PMID: 40149454
DOI: 10.3390/genes16030303

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