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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
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SPTAN1 3 individuals #67

Open pnrobinson opened 6 months ago

pnrobinson commented 6 months ago

https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.62507