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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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POLR1A #47

Closed pnrobinson closed 4 months ago

pnrobinson commented 9 months ago

https://www.cell.com/ajhg/fulltext/S0002-9297(23)00098-8#supplementaryMaterial

LCCarmody commented 6 months ago

I'm taking this one

pnrobinson commented 4 months ago

@LCCarmody sorry, I am seeing this issue now, but I had already done this gene because it was on the list of new diseases to be added to HPOA. Sorry if there was any duplication --