Genome Medicine - Volume 3, issue 10

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Electronic ISSN
1756-994X

Abstract

Functional contributions of cis-regulatory sequence variations to human genetic disease are numerous. For instance, disrupting variations in a HNF4A transcription factor binding site upstream of the Factor IX gene contributes causally to hemophilia B Leyden. Although clinical genome sequen

Journal: Genome Medicine, vol. 3, no. 10, 2011