Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients.

NPJ Genom Med · 2025 · PMC12280026 · PMID 40691161

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an increasing trendno p-value reported

The relationship between the score and the number of diagnostic entries was significant but non-linear: the score decreased with entry count up to 200 before showing an increasing trend.

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