Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.C746W
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PHEX

NM_000444.6:p.C746W

Associated Papers

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

A novel PHEX mutation associated with vitamin D-resistant rickets.

Sako S et al.

Human Genome Variation, 2019

Genetic analysis of three families with X-linked dominant hypophosphatemic rickets.

Lin X et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature.

Cheon CK et al.

Annals of Pediatric Endocrinology & Metabolism, 2014

Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.

Durmaz E et al.

Bone, 2013

Novel regulators of phosphate homeostasis and bone metabolism.

Jüppner H

Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2007

Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.

Lo FS et al.

Nephron. Physiology, 2006

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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."