Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy

Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy

Abstract Background Dilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure. Up to 50% of all DCM cases have a genetic background, with variants in over 250 genes reported in association with DCM. Whole-exome sequencing (WES) is a powerful tool to identify variants un...

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Bibliographic Details
Main Authors: Serwa Ghasemi, Mohammad Mahdavi, Majid Maleki, Iman Salahshourifar, Samira Kalayinia
Format: Article
Language:English
Published: BMC 2023-12-01
Series:BMC Medical Genomics
Subjects:
Whole-exome sequencing
Dilated cardiomyopathy
MED12
Protein-protein docking
Variant
Online Access:https://doi.org/10.1186/s12920-023-01780-9

Internet

https://doi.org/10.1186/s12920-023-01780-9

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