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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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Curate *LMNA* variants #12

Closed ielis closed 1 year ago

ielis commented 1 year ago

Curate variants in LMNA that lead to progeria, MADA, familial type 2 lipodystrophy, cardiomyopathy and emery-dreifuss muscular dystrophy.

ielis commented 1 year ago

Still work in progress..