Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.S745P
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PHEX

NM_000444.6:p.S745P

Associated Papers

Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.

Gan YM et al.

Cell Death & Disease, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."