De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
一名患有神经发育障碍和免疫缺陷的患者体内存在新生TLK1和MDM1突变
期刊:iScience
影响因子:4.6
doi:10.1016/j.isci.2024.109984
Marina Villamor-Payà ,María Sanchiz-Calvo ,Jordann Smak ,Lynn Pais ,Malika Sud ,Uma Shankavaram ,Alysia Kern Lovgren ,Christina Austin-Tse ,Vijay S Ganesh ,Marina Gay ,Marta Vilaseca ,Gianluca Arauz-Garofalo ,Lluís Palenzuela ,Grace VanNoy ,Anne O'Donnell-Luria ,Travis H Stracker