Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy

Antonio de Marvao,Kathryn A. McGurk,Sean L. Zheng,Marjola Thanaj,Wenjia Bai,Jinming Duan,Carlo Biffi,Francesco Mazzarotto,Ben Statton,Timothy J W Dawes,Nicoló Savioli,Brian P. Halliday,Xiao Xu,Rachel Buchan,A. John Baksi,Marina Quinlan,Pawel Tokarczuk,Upasana Tayal,Catherine Francis,Nicola Whiffin,Pantazis I. Theotokis,Xiaolei Zhang,Mikyung Jang,Alaine Berry,Antonis Pantazis,Paul J.R. Barton,Daniel Rueckert,Sanjay K. Prasad,Roddy Walsh,Carolyn Y. Ho,Stuart A. Cook,James S. Ware,Declan P. ORegan

Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy

2021

Abstract Background Hypertrophic cardiomyopathy (HCM) is caused by rare variants in sarcomere-encoding genes, but little is known about the clinical significance of these variants in the general po...

Keywords:

genetic variants
Clinical significance
Genetics
Phenotype
Gene
Hypertrophic cardiomyopathy
Medicine
Penetrance

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