Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.

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Title: Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Authors: Beck DB; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Center for Human Genetics and Genomics, New York University School of Medicine.; Division of Rheumatology, Department of Medicine, New York University School of Medicine., Bodian DL; Geisinger Research, North Bethesda, Maryland., Shah V; Department of Molecular and Functional Genomics, Geisinger, Danville, Pennsylvania., Mirshahi UL; Department of Molecular and Functional Genomics, Geisinger, Danville, Pennsylvania., Kim J; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland., Ding Y; Department of Laboratory Medicine, Geisinger, Danville, Pennsylvania., Magaziner SJ; Center for Human Genetics and Genomics, New York University School of Medicine., Strande NT; Department of Molecular and Functional Genomics, Geisinger, Danville, Pennsylvania., Cantor A; Center for Human Genetics and Genomics, New York University School of Medicine.; Division of Rheumatology, Department of Medicine, New York University School of Medicine., Haley JS; Department of Molecular and Functional Genomics, Geisinger, Danville, Pennsylvania., Cook A; Department of Molecular and Functional Genomics, Geisinger, Danville, Pennsylvania., Hill W; Department of Molecular and Functional Genomics, Geisinger, Danville, Pennsylvania., Schwartz AL; Department of Pediatrics, Washington University in St Louis, Missouri., Grayson PC; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland., Ferrada MA; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland., Kastner DL; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Carey DJ; Department of Molecular and Functional Genomics, Geisinger, Danville, Pennsylvania., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland.
Source: JAMA [JAMA] 2023 Jan 24; Vol. 329 (4), pp. 318-324.
Publication Type: Observational Study; Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1538-3598
DOI:10.1001/jama.2022.24836