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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

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Peter Kovacs

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Case report Open access Jul 2026

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia

This case highlights the diagnostic value of comprehensive genomic analysis and subsequent RNA sequencing for identifying and analyzing deep intronic variants in genetically unexplained cases of XLH and underscores the importance of re-evaluating patients with a strong clinical diagnosis but previously negative genetic results.

Susanne Spranger, Helene Faust, Patricia Duffek et al. · 0 citations

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