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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHEX

Variant:p.E96*

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PHEX

NM_000444.6:p.E96*

hg38:chrX:22047148 G>T

Associated Papers

Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.

Chandran M et al.

Nephron. Physiology, 2010

20664300 (PubMed )

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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."