Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.R716Splc
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PHEX

NM_000444.6:p.R716Splc

Associated Papers

Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation.

Zhao Y et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

[Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia].

Li J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017

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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."