Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
BRF2 的双等位基因变异与围产期死亡和颅面畸形有关
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-025-01463-3
Mattioli Francesca, Friðriksdóttir Rún, Hebert Anne, Bassani Sissy, Ibrahim Nazia, Naz Shagufta, Chrast Jacqueline, Pailler-Pradeau Clara, Oddsson Ãsmundur, Sulem Patrick, Halldorsson Gisli H, Melsted Páll, Guðbjartsson DanÃel F, Palombo Flavia, Pippucci Tommaso, Nouri Nayereh, Seri Marco, Farrow Emily G, Saunders Carol J, Guex Nicolas, Ansar Muhammad, Stefansson Kari, Reymond Alexandre
