Novel PHEX Gene Locus‐Specific Database: Comprehensive Characterization of Vast Number of Variants Associated with X‐linked Hypophosphatemia (XLH)

In this paper with Ultragenyx, Genomenon provided a comprehensive literature review using Mastermind, a database of variants with evidence cited in the medical literature.

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Every Missing Genetic Variant is a Patient Your Label Doesn't Reach
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