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Functional and <i>In Silico</i> Characterization of ALPL Gene Variants Reveals Genotype-Phenotype Correlations in Italian Hypophosphatasia Patients.

Cells · 2025 · PMC12651241 · PMID 41294821

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a possible trendno p-value reported
Combining all these results, for at least 12 out of 17 variants (70.5%; A33V, D109E, Q207P, M219I, H267P, Y285*, E298K, S310Pfs*28, R391H, R391P*fs14, H472R and *525Rfs*11) a possible trend of genotype/functional/phenotype correlation was inferred.

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