GeneticsThe EMBO JournalPeer-reviewed
Dosage sensitivity in Pumilio1-related phenotypes reflects distinct disease mechanisms
Salvatore Botta, Nicola de Prisco, Alexei Chemiakine…·Vincenzo Alessandro Gennarino
The paper investigates how different PUM1 mutations lead to distinct phenotypes by analyzing PUM1 interactomes and showing that dosage sensitivity involves non-linear mechanisms.
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