Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy
Author:
Affiliation:
1. Institute of Molecular Genetics of National Research Centre Moscow Russia
2. Pirogov Russian National Research Medical University Moscow Russia
Funder
Russian Foundation for Basic Research
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1808
Reference85 articles.
1. A method and server for predicting damaging missense mutations
2. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
3. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives
4. Cardiac Ankyrin Repeat Protein Gene (ANKRD1) Mutations in Hypertrophic Cardiomyopathy
5. Genetics of hypertrophic cardiomyopathy in Norway
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1. Rare Mutations V453X and Y847X in the MYBPC3 Gene Do Not Lead to a Severe Form of Hypertrophic Cardiomyopathy in the Russian Population;Molecular Genetics, Microbiology and Virology;2023-12
2. Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study;Genes;2023-11-04
3. Platelet adhesion mediated by von Willebrand factor in patients with premature coronary artery disease;Kardiologiia;2023-03-31
4. No Effect of the p.Arg230His Variant Of The VCL Protein on the Course of the Hypertrophic Cardiomyopathy In Russian Family Carrying The p.Gln1233Ter Pathogenic Variant In The MYBPC3 Gene;Kardiologiia;2023-03-31
5. Prevalence of MYBPC3 Gene Mutations in Russian Patients with Hypertrophic Cardiomyopathy;Molecular Genetics, Microbiology and Virology;2023-03
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