[seven PHEX mutations were detected in X-linked hypophosphatemic rickets patients: two missense mutations, two nonsense mutations, and three short deletions; no functional FGF23 mutation was detected in any patient ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE