De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
NARS1 中的新生和双等位基因致病变异会因毒性的功能获得和部分功能丧失效应而导致神经发育迟缓
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.06.016
Andreea Manole, Stephanie Efthymiou, Emer O'Connor, Marisa I Mendes, Matthew Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, Maria Rodriguez Lopez, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep Walia, Christopher S Francklyn, Alkyoni Athanasiou-Fragkouli, Roisin Sulliv
