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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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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome #120

Closed pnrobinson closed 1 month ago

pnrobinson commented 1 month ago

https://pubmed.ncbi.nlm.nih.gov/39013458/

pnrobinson commented 1 month ago

done!