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Article

Deep Learning-Based Prediction of Pathogenicity for ABL1 Protein Variants Using Sequence Representation.

Studies in health technology and informatics - 21 May 2026

Şilbir Gülbahar Merve, Kurt Burçin

Abstract excerpt

The ABL1 gene encodes a non-receptor tyrosine kinase implicated in leukemia and other genetic disorders. This study presents a deep learning-based approach for predicting the pathogenicity of ABL1 single amino acid variants (SAVs) using amino acid sequence representations. Variant data collected from UniProt, ClinVar, dbSNP, and EVS databases were encoded through embedding and transformer-based methods. Multiple...

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PMID: 42174886
DOI: 10.3233/SHTI260210

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ABL1

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