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Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives

The study of inborn errors of immunity is based on a comprehensive clinical description of the patient’s phenotype and the elucidation of the underlying molecular mechanisms and their genetic etiology. Deciphering the pathogenesis is key to genetic counseling and the development of targeted therapy....

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Détails bibliographiques
Publié dans:F1000Res
Auteurs principaux: Bosch, Barbara, Itan, Yuval, Meyts, Isabelle
Format: Artigo
Langue:Inglês
Publié: F1000 Research Limited 2017
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5710381/
https://ncbi.nlm.nih.gov/pubmed/29225788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.12365.1
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