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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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关键词
replication factor C (RFC) complex
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