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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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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features #55

Open pnrobinson opened 9 months ago

pnrobinson commented 9 months ago

https://www.jci.org/articles/view/171235

pnrobinson commented 4 months ago

RBFOX1 and PRPF19 are not in OMIM yet. Added data from U2AF2