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Ryan S. Barkham on Muck Rack

Ryan S. Barkham

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Articles

Mechanisms underlying disease-causing variants in promoters and enhancers

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By Hannah Long Verified, Kun Wu, Wendy A. Bickmore, Ryan S. Barkham
| Nature Verified
Abstract The study of human monogenic disorders has been a powerful tool for generating a deep understanding of protein function/dysfunction and for uncovering underlying biological mechanisms. Here we explore the insights that an expanding catalog of noncoding monogenic disease variants can provide into the functions of the noncoding genome.
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