Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools
This case report/series was triaged for T4 - AI/ML in Clinical Diagnostics based on abstract review. It appears standard priority because it addresses a direct clinical or diagnostic question with limited evidence maturity.
This case report/series was triaged for T4 - AI/ML in Clinical Diagnostics based on abstract review. It appears standard priority because it addresses a direct clinical or diagnostic question with limited evidence maturity.
What the study was
- Study design
- Case report/series
- Maturity
- Exploratory
- Journal
- European journal of human genetics : EJHG
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