2020Clinical ImmunologyRequires access

Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community

Amos J. Simon, Adi Cohen Golan, Atar Lev, Tali Stauber, Ortal Barel, Ido Somekh, Christoph A. Klein, Omar AbuZaitun, Eran Eyal, Nitzan Kol, Ekrem Ünal, Ninette Amariglio, Gideon Rechavi, Raz Somech

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Key concepts: Consanguinity, Exome sequencing, Primary immunodeficiency, Medicine, Pediatrics, Cohort, Newborn screening, Genetic testing

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Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community — Research Paper | ScholarLens