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

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

  • By

  • Susanne Spranger

  • Helene Faust

  • Patricia Duffek

  • Susanna Schubert

  • Heyko Skladny

  • Peter Kovacs

  • Anke Tönjes

  • Denny Popp

  • July 9, 2026

  • 0 min

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Original Source(s)

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

  • by Susanne Spranger, Helene Faust, Patricia Duffek, Susanna Schubert, Heyko Skladny, Peter Kovacs, Anke Tönjes, Denny Popp

  • July 9, 2026

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