Genetic & Genomic MedicinemedRxivPreprint
Biallelic STAB1 pathogenic variants cause hereditary hyperferritinemia
Edoardo Monfrini, Sara Pelucchi, Maija Hollmén…·Alberto Piperno
The paper identifies biallelic STAB1 mutations as a genetic cause of inherited hyperferritinemia without iron overload.
DOI 10.1101/2022.11.24.22282670