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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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Detalhes bibliográficos
Publicado no:Hematology Am Soc Hematol Educ Program
Main Authors: Notarangelo, Luigi D., Uzel, Gulbu, Rao, V. Koneti
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2019
Assuntos:
Acesso em linha: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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