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Author

Cielo C. Baez

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Case report Open access Aug 2026

Noncanonical Splice Site Disruption: +4 Intronic Variant in Phosphate-Regulating Endopeptidase Homolog, X-linked (PHEX Gene) Supported by In Silico Analysis in X-linked Hypophosphatemic Rickets

This case highlights the importance of integrating clinical, biochemical, genetic, and computational data for the interpretation of noncanonical intronic variants, expanding the mutational spectrum described for PHEX in X-linked hypophosphatemic rickets.

Carlos F. Panqueba Arias, Ingry K. Rojas Rodriguez, Rossi I. Quero et al. · 0 citations

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