Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.Q311fs
Back to variants list

PHEX

NM_000444.6:p.Q311fs

Associated Papers

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

Lin X et al.

Frontiers in Cell and Developmental Biology, 2021

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

[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].

Ran Q et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."