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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

ACBD6 #52

Closed pnrobinson closed 1 month ago

pnrobinson commented 9 months ago

https://pubmed.ncbi.nlm.nih.gov/37951597/

pnrobinson commented 4 months ago

Not yet in OMIM ACBD6_Clinical_Kaiyrzhanov.xlsx This is an excel file slightly modified from the supplement that can be used for ingest

pnrobinson commented 1 month ago

added!