Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range
编码突触前蛋白 Bassoon 的 BSN 基因变异会导致一种独特的神经发育障碍，其表型范围很广。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.04.011
Guzman, Stacy G; Ruggiero, Sarah M; Ganesan, Shiva; Ellis, Colin A; Harrison, Alicia G; Sullivan, Katie R; Stark, Zornitza; Brown, Natasha J; Kana, Sajel L; Tuttle, Anabelle; Tenorio, Jair; Lapunzina, Pablo; Nevado, Julián; McDonald, Marie T; Jensen, Courtney; Wheeler, Patricia G; Stange, Lila; Morrison, Jennifer; Keren, Boris; Heide, Solveig; Keating, Meg W; Butler, Kameryn M; Lyons, Mike A; Jain, Shailly; Yeganeh, Mehdi; Thompson, Michelle L; Schroeder, Molly; Nguyen, Hoanh; Granadillo, Jorge; Johnston, Kari M; Murali, Chaya N; Bosanko, Katie; Burrow, T Andrew; Morgan, Syreeta; Watson, Deborah J; Hakonarson, Hakon; Helbig, Ingo
