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monarch-initiative / phenopacket-store

Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.
https://monarch-initiative.github.io/phenopacket-store/
BSD 3-Clause "New" or "Revised" License
14 stars 4 forks source link

NAE1 #51

Closed pnrobinson closed 4 months ago

pnrobinson commented 9 months ago

https://www.cell.com/ajhg/fulltext/S0002-9297(22)00537-7

pnrobinson commented 4 months ago

done