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Paper Details

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
J Clin Immunol
29
2020
5'UTR, 800-bp duplication, ADA2, Adenosine, DADA2, DBA, Deficiency of Adenosine Deaminase 2, Deficiency of adenosine deaminase 2, Diamond-Blackfan anemia, Tyr453Cys, adenosine, autosomal recessive disorder, c, c.1358A>G, exon 7, fever, hematologic dysfunction, ischemic strokes, livedo, loss-of-function allele, p.Tyr453Cys, strokes, vasculitis
Author NameAffiliation
Carolyn D ApplegateJohns Hopkins University School of Medicine
Philip D WitmerJohns Hopkins University School of Medicine
Nara SobreiraJohns Hopkins University School of Medicine
Daniel L KastnerNational Human Genome Research Institute (NHGRI)
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