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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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We help provide insights into key genetic drivers of diseases and relevant biomarkers. By working together to understand this data, we enable scientists and researchers to make more informed decisions on programs of interest. To learn more about how we can partner together to find your genomic variant solutions, we invite you to click on the link below.

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