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Comprehensive Analysis of Tissue-wide Gene Expression and Phenotype Data Reveals Tissues Affected in Rare Genetic Disorders

Linking putatively pathogenic variants to the tissues they affect is necessary for determining the correct diagnostic workup and therapeutic regime in undiagnosed patients. Here, we explored how gene expression across healthy tissues can be used to infer this link. We integrated 6,665 tissue-wide tr...

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Detaylı Bibliyografya
Yayımlandı:Cell Syst
Asıl Yazarlar: Feiglin, Ariel, Allen, Bryce K, Kohane, Isaac S., Kong, Sek Won
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2017
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5928498/
https://ncbi.nlm.nih.gov/pubmed/28822752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cels.2017.06.016
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