Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.G102R
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PHEX

NM_000444.6:p.G102R

Associated Papers

Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.

Rush ET et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).

Sarafrazi S et al.

Human Mutation, 2022

34806794 (PubMed )
Supplement: HUMU-43-143-s001.xlsx › Table_S1-_870_PHEX_variants

Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia.

Lin X et al.

Frontiers in Cell and Developmental Biology, 2021

Targeted resequencing of phosphorus metabolism‑related genes in 86 patients with hypophosphatemic rickets/osteomalacia.

Gu J et al.

International Journal of Molecular Medicine, 2018

Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.

Li SS et al.

International Journal of Molecular Medicine, 2016

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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."