Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.K299N
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PHEX

NM_000444.6:p.K299N

Associated Papers

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

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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."