Associated Papers
Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.
Temena MA et al.
Scientific Reports, 2025
40369053 (PubMed )
Supplement: 41598_2025_1007_MOESM2_ESM.xlsx › Table_1C
Reappraisal of ANK2 Variants in Cardiovascular Diseases: Uncovering Mechanisms and Future Directions.
Guo L et al.
Reviews in Cardiovascular Medicine, 2025
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants
Zfhx3 Transcription Factor Represses the Expression of SCN5A Gene and Decreases Sodium Current Density (INa).
Rubio-Alarcón M et al.
International Journal of Molecular Sciences, 2021
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
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