Key result
An online database was created containing 481 variants in eight ARVD/C-associated genes, including 144 pathogenic variants, to aid researchers and clinicians in interpreting genetic data.
Population
Genetic variants in genes associated with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)
Design
Other
Authors
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May aid ARVD/C variant classification; leaves open prospective validation before clinical adoption.
The creation of a comprehensive, publicly accessible database of ARVD/C genetic variants aids clinicians and researchers in determining the pathogenicity of specific mutations.
Zwaag et al. (2009) studied Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). ARVD/C genetic variants database was evaluated. An online database was created containing 481 variants in eight ARVD/C-associated genes, including 144 pathogenic variants, to aid researchers and clinicians in interpreting genetic data.
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