Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.G572C
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PHEX

NM_000444.6:p.G572C

Associated Papers

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay.

Pan F et al.

Frontiers in Genetics, 2024

X-linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro.

Sant' Ana I et al.

Molecular Genetics & Genomic Medicine, 2022

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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."