Expanding the Genetic and Phenotypic Landscape of Replication Factor C Complex-Related Disorders: RFC4 Deficiency is Linked to a Multisystemic Disorder Marie Morimoto , Eunjin Ryu , Benjamin J. Steger , Abhijit Dixit , Yoshihiko Saito , Juyeong Yoo , Amelie T. van der Ven , Natalie Hauser , Peter J. Steinbach , Kazumasa Oura , Alden Y. Huang , Fanny Kortum , Shinsuke Ninomiya , Elisabeth A. Rosenthal , Hannah K. Robinson , Katie Guegan , Jonas Denecke , Sankarasubramoney H. Subramony , Callie J. Diamonstein , Jie Ping , Mark Fenner , Elsa Balton , Sam Strohbehn , Aimee Allworth , Michael J. Bamshad , Mahi Gandhi , Katrina M. Dipple , Elizabeth E. Blue , Gail P. Jarvik , C. Christopher Lau , Ingrid A. Holm , Monika Weisz-Hubshman , Benjamin D. Solomon , Stanley F. Nelson , Ichizo Nishino , David R. Adams , Sukhyun Kang , William A. Gahl , Camilo Toro , Kyungjae Myung , May Christine V. Malicdan AMERICAN JOURNAL OF HUMAN GENETICS(2024)
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replication factor C (RFC) complex
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