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H-BRS Bibliography
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Institut für funktionale Gen-Analytik (IFGA)
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Article
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Year of publication
2020
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Language
English
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Keywords
Exome sequencing
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deficiency of adenosine deaminase 2
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genome sequencing
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loss-of-function variants
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Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
(2020)
Schnappauf, Oskar
;
Zhou, Qing
;
Moura, Natalia Sampaio
;
Ombrello, Amanda K.
;
Michael, Drew G.
;
Deuitch, Natalie
;
Barron, Karyl
;
Stone, Deborah L.
;
Hoffmann, Patrycja
;
Hershfield, Michael
;
Applegate, Carolyn
;
Bjornsson, Hans T.
;
Beck, David B.
;
Witmer, P. Dane
;
Sobreira, Nara
;
Wohler, Elizabeth
;
Chiorini, John A.
;
Center, The American Genome
;
Dalgard, Clifton L.
;
Center, Nih Intramural Sequencing
;
Kastner, Daniel L.
;
Aksentijevich, Ivona
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