Article

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

2017-11-28

Abstract excerpt

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. This review shows the power of whole-exome sequencing in detecting inborn errors of immunity along five central step...

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Literature Corpus work: 7c278c77-6211-5505-855a-f52097b16321
DOI: 10.12688/f1000research.12365.1

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