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Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However, success in dissecting the genetic etiology of common variable immunodeficiency (CVID) has been limited. We outline a practical framework for usi...

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Detalles Bibliográficos
Autores principales:	Maffucci, Patrick, Filion, Charles A., Boisson, Bertrand, Itan, Yuval, Shang, Lei, Casanova, Jean-Laurent, Cunningham-Rundles, Charlotte
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2016
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4903998/ https://www.ncbi.nlm.nih.gov/pubmed/27379089 http://dx.doi.org/10.3389/fimmu.2016.00220

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