Population
1714 human dilated cardiomyopathy cases and >69 000 controls
Design
Case-control
Authors
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May aid TTN variant classification in DCM; hypothesis-generating and requires prospective validation.
An integrative statistical model incorporating alternative splicing, internal promoter disruption, and distal C terminus targeting can accurately predict the pathogenicity of Titin truncation variants in dilated cardiomyopathy.
Rahul C. Deo (2016) studied this question.
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