Development of a Comprehensive, Locus-Specific Patient Database for ENPP1 Deficiency

Presented at ASHG 2021 by Inozyme Pharma, this in-depth analysis of patient data for ENPP1 Deficiency produced by Genomenon identified close to 90% more pathogenic/likely pathogenic variants than ClinVar.

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