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Primary immunodeficiencies: novel genes and unusual presentations

Recent advances in genomics have greatly expanded the spectrum of primary immune deficiencies (PIDs). Along with the identification of pathogenic variants in novel genes, distinct phenotypes have been associated with different variants in the same gene. Although PIDs have been historically defined b...

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Vydáno v:Hematology Am Soc Hematol Educ Program
Hlavní autoři: Notarangelo, Luigi D., Uzel, Gulbu, Rao, V. Koneti
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6913429/
https://ncbi.nlm.nih.gov/pubmed/31808899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/hematology.2019000051
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