Article

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

2024-10-04

Abstract excerpt

The Signal Transducer and Activator of Transcription 1 (STAT1) gene is an essential component of the JAK-STAT signalling pathway. This pathway has a pivotal role in regulating different cellular processes, including immune responses, cell growth, and apoptosis. Mutations in the STAT1 gene contribute to various body pathologies [OMIM #600555], including immune system dysfunction. In the current study, we used ei...

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Literature Corpus work: d035954a-c282-55f1-a858-e798cb3abe20
DOI: 10.1101/2024.10.04.616446

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