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Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

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Metadaten
Document Type:Article
Language:English
Author:Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch, Karyl Barron, Deborah L. Stone, Patrycja Hoffmann, Michael Hershfield, Carolyn Applegate, Hans T. Bjornsson, David B. Beck, P. Dane Witmer, Nara Sobreira, Elizabeth Wohler, John A. Chiorini, The American Genome Center, Clifton L. Dalgard, Nih Intramural Sequencing Center, Daniel L. Kastner, Ivona Aksentijevich
Parent Title (English):Journal of Clinical Immunology
Volume:40
Issue:6
Number of pages:10
First Page:917
Last Page:926
ISSN:0271-9142
DOI:https://doi.org/10.1007/s10875-020-00817-3
PMID:https://pubmed.ncbi.nlm.nih.gov/32638197
Publisher:Springer
Date of first publication:2020/07/08
Keyword:Exome sequencing; deficiency of adenosine deaminase 2; genome sequencing; loss-of-function variants
Departments, institutes and facilities:Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie
Entry in this database:2023/07/27