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Doctor Keiko Sonoda

National Cerebral & Cardiovascular Center, Suita (Japan)
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Amplicon-based long-read sequencing is useful for confirming zygosity of DSG2 variants associated with Japanese ARVC.
Presentation
Amplicon-based long-read sequencing is useful for confirming zygosity of DSG2 variants associated with Japanese ARVC.
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Homozygous or compound heterozygous variants in DSG2 are mainly causative of Japanese arrhythmogenic right ventricular cardiomyopathy.
Presentation
Homozygous or compound heterozygous variants in DSG2 are mainly causative of Japanese arrhythmogenic right ventricular cardiomyopathy.
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Different prognosis of ARVC patients between DSG2 and PKP2 variant carriers
Presentation
Different prognosis of ARVC patients between DSG2 and PKP2 variant carriers
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Early onset of heart failure in Japanese ARVC patients with pathogenic desmosomal gene variants
Presentation
Early onset of heart failure in Japanese ARVC patients with pathogenic desmosomal gene variants
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Long-read sequence confirmed a large deletion of MYH6 and MYH7 in a family with atrial septal defect
Presentation
Long-read sequence confirmed a large deletion of MYH6 and MYH7 in a family with atrial septal defect
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Copy number variations in SCN5A associated with Brugada syndrome
Presentation
Copy number variations in SCN5A associated with Brugada syndrome
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