De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE-1 Element Insertion Resulting in Chronic Granulomatous Disease
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Title
De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE-1 Element Insertion Resulting in Chronic Granulomatous Disease
Authors
Keywords
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Journal
JOURNAL OF CLINICAL IMMUNOLOGY
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-08-23
DOI
10.1007/s10875-022-01347-w
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- (2019) Lindsay M. Payer et al. NATURE REVIEWS GENETICS
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