Key result
The novel TAB2 variant R347X causes cardiomyopathy and congenital heart defects in a multigenerational family.
Molecular modeling techniques were used to investigate a novel TAB2 variant (R347X) associated with cardiomyopathy and congenital heart defects.
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Hypothesis-generating in one family; leaves open generalizability and need for validation before clinical adoption.
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Caulfield et al. (2018) studied this question. The novel TAB2 variant R347X causes cardiomyopathy and congenital heart defects in a multigenerational family.
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