HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
HNRNPC 单倍体不足会影响智力障碍相关基因的选择性剪接,并导致神经发育障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.07.005
Eva Niggl, Arjan Bouman, Lauren C Briere, Remco M Hoogenboezem, Ilse Wallaard, Joohyun Park, Jakob Admard, Martina Wilke, Emilio D R O Harris-Mostert, Minetta Elgersma, Jennifer Bain, Meena Balasubramanian, Siddharth Banka, Paul J Benke, Miriam Bertrand, Alyssa E Blesson, Jill Clayton-Smith, Jamie M