Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/s41588-018-0192-y.pdf
Reference50 articles.
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3. Milne, R. L. & Antoniou, A. C. Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers. Ann. Oncol. 22(Suppl 1), i11–17 (2011).
4. Emison, E. S. et al. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 434, 857–863 (2005).
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