Euan A. Ashley
Publication Details
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Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.
Circ Cardiovasc Genet. 2012; (6): 602-10
The clinical significance of variants in genes associated with inherited cardiomyopathies can be difficult to determine because of uncertainty regarding population genetic variation and a surprising amount of tolerance of the genome even to loss-of-function variants. We hypothesized that genes associated with cardiomyopathy might be particularly resistant to the accumulation of genetic variation.
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