@ielis
Here are 19 phenopackets for a newly described disease. The recessive cases likely will cluster differently from the dominant cases (https://pubmed.ncbi.nlm.nih.gov/37433783/). If we can recapitulate this, it would be a great addition to the C2S2 project. I checked in the phenopackets after checking them with pfx.
@ielis Here are 19 phenopackets for a newly described disease. The recessive cases likely will cluster differently from the dominant cases (https://pubmed.ncbi.nlm.nih.gov/37433783/). If we can recapitulate this, it would be a great addition to the C2S2 project. I checked in the phenopackets after checking them with pfx.