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Paper Details

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med
10
2023
26 proteasomes, AAA-ATPase, AAA-ATPase proteasome subunits, ATPase-, IFN, PKR, PSMC1, PSMC1-6, PSMC3, PSMC3 proteasome subunit variants, Rpt5, T, T cells, fly, intellectual disability, mouse, mouse neuronal cultures, neurodevelopmental delay, neurodevelopmental disorders, patient, patients, protein kinase R, type I IFN, type I interferon
Author NameAffiliation
Francis Sessions ColeWashington University School of Medicine
Vickie HannigVanderbilt University Medical Center
Zöe Powis
Shehla MohammedWellcome Trust Sanger Institute
Shehla MohammedClinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust
Yiran GuoCenter for Applied Genomics, Children's Hospital of Philadelphia
Yiran GuoCenter for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Yiran GuoCenter for Applied Genomics, Children's Hospital of Philadelphia
Yiran GuoCenter for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia
Ren?? G FeichtingerUniversity Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU)
Johannes A MayrUniversity Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU)
Uwe V??lkerUniversitatsmedizin Greifswald, Interfakultares Institut fur Genetik und Funktionelle Genomforschung
Uwe V??lkerUniversitatsmedizin Greifswald, Interfakultares Institut fur Genetik und Funktionelle Genomforschung
Arnaud DroitResearch Center of Quebec CHU-Universite Laval
Evan E EichlerUniversity of Washington School of Medicine
Evan E EichlerHoward Hughes Medical Institute, University of Washington
Evan E EichlerUniversity of Washington School of Medicine
Evan E EichlerHoward Hughes Medical Institute, University of Washington
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