Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions.

Hum Mutat · 2026 · PMC12759035 · PMID 41488398

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a positive trendno p-value reported

Conversely, the overall median PPV, calculated across all eligible patients, shows a positive trend with HI‐gene overlap, peaking at 0.333 when the minimum HI‐gene similarity is set to 70% or higher (Table 2 ).

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