Publication
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
Long Guo, Smrithi Salian, Jing-yi Xue, Nicola Rath, Justine Rousseau, Hyunyun Kim, Sophie Ehresmann, Shahida Moosa, Norio Nakagawa, Hiroshi Kuroda, Jill Clayton-Smith, Juan Wang, Zheng Wang, Siddharth Banka, Adam Jackson, Yan-min Zhang, Zhen-jie Wei, Irina Hüning, Theresa Brunet, Hirofumi Ohashi, Molly F. Thomas, Caleb Bupp, Noriko Miyake, Naomichi Matsumoto, Roberto Mendoza-Londono, Gregory Costain, Gabriele Hahn, Nataliya Di Donato, Gökhan Yigit, Takahiro Yamada, Gen Nishimura, K Mark Ansel, Bernd Wollnik, Martin Hrabě de Angelis, André Mégarbané, Jill A. Rosenfeld, Vigo Heissmeyer, Shiro Ikegawa, Philippe M. Campeau
The American Journal of Human Genetics, July 2023, Elsevier
DOI: 10.1016/j.ajhg.2023.06.001