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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

FBN1 #14

Closed pnrobinson closed 12 months ago

pnrobinson commented 1 year ago

Curation

pnrobinson commented 12 months ago

This paper has a good summary of the lipodystrophy data https://pubmed.ncbi.nlm.nih.gov/31774634/

pnrobinson commented 12 months ago

done