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Open Access
Peer-reviewed
Research Article
A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals
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Victor N. Rivas,
Roles Formal analysis, Investigation, Methodology, Visualization, Writing – original draft, Writing – review & editing
Affiliation Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America
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K. Gary Magdesian,
Roles Conceptualization, Data curation, Funding acquisition, Investigation, Resources, Supervision, Writing – review & editing
Affiliation Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America
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Sophia Fagan,
Roles Formal analysis, Investigation, Methodology, Visualization, Writing – original draft, Writing – review & editing
Affiliation Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale School of Medicine, Yale University, New Haven, Connecticut, United States of America
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Nathan M. Slovis,
Roles Data curation, Investigation, Writing – review & editing
Affiliation Hagyard Equine Medical Hospital, Lexington, Kentucky, United States of America
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Daniela Luethy,
Roles Data curation, Investigation, Writing – review & editing
Affiliation Department of Clinical Studies–New Bolton Center, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Laura H. Javsicas,
Roles Data curation, Investigation, Writing – review & editing
Affiliation Rhinebeck Equine L.L.P., Rhinebeck, New York, United States of America
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Brian G. Caserto,
Roles Formal analysis, Investigation, Writing – review & editing
Affiliation VetPath Services, Stone Ridge, NY, United States of America
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Andrew D. Miller,
Roles Formal analysis, Investigation, Visualization, Writing – review & editing
Affiliation Department of Biomedical Sciences, Section of Anatomic Pathology, College of Veterinary Medicine, Cornell University, Ithaca, New York, United States of America
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Anna R. Dahlgren,
Roles Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – review & editing
Affiliation Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America
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Janel Peterson,
Roles Investigation, Methodology, Writing – review & editing
Affiliation Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America
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Erin N. Hales,
Roles Investigation, Methodology, Writing – review & editing
Affiliation Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America
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Sichong Peng,
Roles Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America
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Katherine D. Watson,
Roles Formal analysis, Investigation, Writing – review & editing
Affiliation Department of Anatomic Pathology, Veterinary Medical Teaching Hospital, University of California-Davis, Davis, California, United States of America
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Mustafa K. Khokha,
Roles Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliation Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale School of Medicine, Yale University, New Haven, Connecticut, United States of America
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Carrie J. Finno
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing
* E-mail: cjfinno@ucdavis.edu
Affiliation Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America
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A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals
- Victor N. Rivas,
- K. Gary Magdesian,
- Sophia Fagan,
- Nathan M. Slovis,
- Daniela Luethy,
- Laura H. Javsicas,
- Brian G. Caserto,
- Andrew D. Miller,
- Anna R. Dahlgren,
- Janel Peterson
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- Published: September 28, 2020
- https://doi.org/10.1371/journal.pgen.1009028