Varaico: Literature-Extracted Genetic Variants

Gene:FGF23
Variant:p.S180I
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FGF23

NM_020638.3:p.S180I

Associated Papers

Autosomal dominant hypophosphatemic rickets: a case report of two sisters with a novel FGF-23 mutation.

Mumbach G et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2025

A Novel Pathogenic Variant in Fibroblast Growth Factor 23 outside the Furin-Recognizing RXXR Motif in an Autosomal Dominant Hypophosphatemic Rickets Patient.

Tanaka H et al.

Hormone Research in Paediatrics, 2025

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