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Published 20 hours ago • verified publisher icon monarch-initiative

new disease association HEATR3

Open ValWood opened this issue 2 years ago • 0 comments

HEATR3 PMID: 35213692 MONDO:0015253

"Our study uncovers a new pathophysiological mechanism leading to DBA driven by biallelic HEATR3 variants and the destabilization of a nuclear import protein important for ribosome biogenesis."

ValWood avatar May 31 '22 10:05 ValWood