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Protein molecular modeling techniques investigating novel TAB 2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family

26 Apr 2018

Abstract excerpt

BACKGROUND: Haploinsufficiency of TAB2 is known to cause congenital heart defects and cardiomyopathy due to its important roles in cardiovascular tissue, both during development and through adult life. We report a sibling pair displaying adult-onset cardiomyopathy, hypermobility, and mild myopia. Our proband, a 39-year-old male, presents only with the above symptoms, while his 36-year-old sister was also notable...

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PMID: 29700987
DOI: 10.1002/mgg3.401

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