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. Author manuscript; available in PMC: 2020 Aug 13.
Published in final edited form as: Circulation. 2019 Aug 12;140(7):595–610. doi: 10.1161/CIRCULATIONAHA.118.035954

Figure 5:

Figure 5:

Regulatory variants as modifiers. Coding region variants on lower-expressed haplotypes are expected to lead to decreased penetrance whereas coding region variants on higher-expressed haplotypes are expected to increase penetrance (reprinted with permission from Springer Nature: Nature Genetics, reference29).