DiscoVari : A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes

With genetic testing advancements, the burden of incidentally identified cardiac disease-associated gene variants is rising. These variants may carry a risk of sudden cardiac death, highlighting the need for accurate diagnostic interpretation. We sought to identify pathogenic hotspots in sudden card...

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Vydané v:	Circulation. Genomic and precision medicine Ročník 16; číslo 4; s. 317
Hlavní autori:	Kurzlechner, Leonie M, Kishnani, Sujata, Chowdhury, Shawon, Atkins, Sage L, Moya-Mendez, Mary E, Parker, Lauren E, Rosamilia, Michael B, Tadros, Hanna J, Pace, Leslie A, Patel, Viraj, Chahal, C Anwar A, Landstrom, Andrew P
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	United States 01.08.2023
Predmet:	Amino Acids Cardiomyopathies - genetics Channelopathies - genetics Death, Sudden, Cardiac - pathology Genetic Variation Humans Precision Medicine Virulence exome sequencing syncope long QT syndrome channelopathy probability
ISSN:	2574-8300, 2574-8300
On-line prístup:	Zistit podrobnosti o prístupe
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