Article

Global analysis of human genetic variations in protein-coding regions

2019-01-01

Abstract excerpt

Do genes enriched in genetic variations that have been linked to human disease have different biological properties than genes enriched in variants that have never been related to disease? What are the characteristics of genes enriched in rare variants, and can they represent the missing link in disease aetiology? The answers to these questions could shed light on the architecture of pathogenesis process and may i...

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Literature Corpus work: 020ff6a6-354e-59c5-ae85-f748108c7074
DOI: 10.25560/68381

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