Upstream open reading frame-introducing variants in patients with primary familial brain calcification
原发性家族性脑钙化患者的上游开放阅读框引入变异
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01580-4
Rovelet-Lecrux, Anne; Bonnevalle, Antoine; Quenez, Olivier; Delcroix, Wandrille; Cassinari, Kévin; Richard, Anne-Claire; Boland, Anne; Deleuze, Jean-François; Goizet, Cyril; Rucar, Alice; Verny, Christophe; Nguyen, Karine; Lecourtois, Magalie; Nicolas, Gaël