Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder Article Swipe

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Marie Morimoto , Eunjin Ryu , Benjamin Steger , Abhijit Dixit , Yoshihiko Saito , Juyeong Yoo , Amelie T. van der Ven , Natalie Hauser , Peter Steinbach , Kazumasa Oura , Alden Huang , Fanny Kortüm , Shinsuke Ninomiya , Elisabeth A. Rosenthal , Hannah K. Robinson , Katie Guegan , Jonas Denecke , Sankarasubramoney H. Subramony , Callie Diamonstein , Jie Ping , Mark Fenner , Elsa Balton , Sam Strohbehn , Aimee Allworth , Michael J. Bamshad , Mahi Gandhi , Katrina M. Dipple , Elizabeth 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 ·

YOU? · · 2024 · Open Access · · DOI: https://doi.org/10.1016/j.ajhg.2024.07.008

Related Topics

Phenotype

Biology

Concepts

Phenotype Replication (statistics) Genetics Biology Virology Gene

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Type: article
Language: en
Landing Page: https://doi.org/10.1016/j.ajhg.2024.07.008
OA Status: green
Cited By: 3
References: 64
Related Works: 10
OpenAlex ID: https://openalex.org/W4401335598

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OpenAlex ID: https://openalex.org/W4401335598

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DOI: https://doi.org/10.1016/j.ajhg.2024.07.008

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Title: Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

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Type: article

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Language: en

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Publication year: 2024

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Publication date: 2024-08-05

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Authors: Marie Morimoto, Eunjin Ryu, Benjamin Steger, Abhijit Dixit, Yoshihiko Saito, Juyeong Yoo, Amelie T. van der Ven, Natalie Hauser, Peter Steinbach, Kazumasa Oura, Alden Huang, Fanny Kortüm, Shinsuke Ninomiya, Elisabeth A. Rosenthal, Hannah K. Robinson, Katie Guegan, Jonas Denecke, Sankarasubramoney H. Subramony, Callie Diamonstein, Jie Ping, Mark Fenner, Elsa Balton, Sam Strohbehn, Aimee Allworth, Michael J. Bamshad, Mahi Gandhi, Katrina M. Dipple, Elizabeth 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

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Landing page: https://doi.org/10.1016/j.ajhg.2024.07.008

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Open access: Yes

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OA status: green

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OA URL: https://www.ncbi.nlm.nih.gov/pmc/articles/11393705

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Concepts: Phenotype, Replication (statistics), Genetics, Biology, Virology, Gene

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Cited by: 3

Total citation count in OpenAlex
Citations by year (recent): 2025: 2, 2024: 1

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References (count): 64

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Related works (count): 10

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