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Exploring the RNA Gap for Improving Diagnostic Yield in Primary Immunodeficiencies

Challenges in diagnosing primary immunodeficiency are numerous and diverse, with current whole-exome and whole-genome sequencing approaches only able to reach a molecular diagnosis in 25–60% of cases. We assess these problems and discuss how RNA-focused analysis has expanded and improved in recent y...

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Detaylı Bibliyografya
Yayımlandı:Front Genet
Asıl Yazarlar: Lye, Jed J., Williams, Anthony, Baralle, Diana
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2019
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6917654/
https://ncbi.nlm.nih.gov/pubmed/31921280
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.01204
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