Frequency, Penetrance, and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank Participants

There is a paucity of data regarding the phenotype of dilated cardiomyopathy (DCM) gene variants in the general population. We aimed to determine the frequency and penetrance of DCM-associated putative pathogenic gene variants in a general adult population, with a focus on the expression of clinical...

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Vydáno v:	Circulation (New York, N.Y.) Ročník 146; číslo 2; s. 110
Hlavní autoři:	Shah, Ravi A, Asatryan, Babken, Sharaf Dabbagh, Ghaith, Aung, Nay, Khanji, Mohammed Y, Lopes, Luis R, van Duijvenboden, Stefan, Holmes, Anthony, Muser, Daniele, Landstrom, Andrew P, Lee, Aaron Mark, Arora, Pankaj, Semsarian, Christopher, Somers, Virend K, Owens, Anjali T, Munroe, Patricia B, Petersen, Steffen E, Chahal, C Anwar A
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States 12.07.2022
Témata:	Arrhythmias, Cardiac - diagnosis Arrhythmias, Cardiac - epidemiology Arrhythmias, Cardiac - genetics Biological Specimen Banks Cardiomyopathies - complications Cardiomyopathy, Dilated - diagnosis Cardiomyopathy, Dilated - epidemiology Cardiomyopathy, Dilated - genetics Humans Penetrance United Kingdom - epidemiology United Kingdom arrhythmias, cardiac death, sudden, cardiac genetics cardiomyopathies genetic testing penetrance
ISSN:	1524-4539, 1524-4539
On-line přístup:	Zjistit podrobnosti o přístupu
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