• Media type: E-Article
  • Title: Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
  • Contributor: Guo, Long; Salian, Smrithi; Xue, Jing-yi; Rath, Nicola; Rousseau, Justine; Kim, Hyunyun; Ehresmann, Sophie; Moosa, Shahida; Nakagawa, Norio; Kuroda, Hiroshi; Clayton-Smith, Jill; Wang, Juan; Wang, Zheng; Banka, Siddharth; Jackson, Adam; Zhang, Yan-min; Wei, Zhen-jie; Hüning, Irina; Brunet, Theresa; Ohashi, Hirofumi; Thomas, Molly F.; Bupp, Caleb; Miyake, Noriko; Matsumoto, Naomichi; [...]
  • Published: Elsevier BV, 2023
  • Published in: The American Journal of Human Genetics, 110 (2023) 7, Seite 1068-1085
  • Language: English
  • DOI: 10.1016/j.ajhg.2023.06.001
  • ISSN: 0002-9297
  • Keywords: Genetics (clinical) ; Genetics
  • Origination:
  • Footnote:
  • Access State: Open Access