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From phenotype to genotype : discovery of new molecular primary immunodeficiencies

2021-01-01

Abstract excerpt

Since the 1950s, the investigation of genetic causes of primary immunodeficiencies has fundamentally shaped our understanding of the immune system, and that fountain of knowledge has continued to expand explosively as we enter the genomic era with the dawn of CRISPR and personalized medicine. In this work, I describe four new monogenetic causes of primary immunodeficiency (PID) and a novel gene that may be associa...

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Literature Corpus work
d9b5a370-b71a-5b0b-b523-b6024b8e2d03
DOI
10.17863/cam.66614
Open publication

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From phenotype to genotype : discovery of new molecular primary immunodeficienciesDOI 10.17863/cam.66614
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