Concepedia

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)

Pui Y. Lee, Erinn S. Kellner, Yuelong Huang, Elissa Furutani, Zhengping Huang, Wayne Bainter, Mohammed F. Alosaimi, Kelsey Stafstrom, Craig D. Platt, Tali Stauber,

Journal of Allergy and Clinical Immunology · 2020 · 150 citations · 26 references

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26

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Qing Zhou, Dan Yang, Amanda K. Ombrello et al. · New England Journal of Medicine · 2014 · 893 citations · Full text

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Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

Paulina Navon Elkan, Sarah B. Pierce, Reeval Segel et al. · New England Journal of Medicine · 2014 · 706 citations

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The Genetic Landscape of Diamond-Blackfan Anemia

Jacob C. Ulirsch, Jeffrey M. Verboon, Shideh Kazerounian et al. · The American Journal of Human Genetics · 2018 · 270 citations · Full text

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ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study

Roberta Caorsi, Federica Penco, Alice Grossi et al. · Annals of the Rheumatic Diseases · 2017 · 260 citations · Full text

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