Literature summary for 3.4.24.B15 extracted from

Lo, F.S.; Kuo, M.T.; Wang, C.J.; Chang, C.H.; Lee, Z.L.; Van, Y.H.
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets (2006), Nephron. Physiol., 103, p157-p163.

Search for more literature for 3.4.24.B15

Protein Variants

Protein Variants	Comment	Organism
L206W	missense mutation responsible for X-linked hypophosphatemic rickets	Homo sapiens
additional information	a frameshift mutation (nucleotide 1826-1830delAAAAG, stop after codon 610) in exon 18 is responsible for X-linked hypophosphatemic rickets	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
PHEX	-	Homo sapiens
phosphate-regulating gene with homologies to endopeptidases on the X-chromosome	-	Homo sapiens

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Release 2023.1 (January 2023)