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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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Detaylı Bibliyografya
Yayımlandı:F1000Res
Asıl Yazarlar: Bosch, Barbara, Itan, Yuval, Meyts, Isabelle
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: F1000 Research Limited 2017
Konular:
Online Erişim: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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