Associated Papers
Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?
van Deventer BS et al.
Forensic Science, Medicine, and Pathology, 2025
39900885 (PubMed )
Supplement: 12024_2025_944_MOESM4_ESM.pdf
Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.
Ebrahim MA et al.
Circulation. Genomic and Precision Medicine, 2025
40265264 (PubMed )
Supplement: circcvg-2024-004896-s01.pdf
Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.
Gallego-Delgado M et al.
International Journal of Molecular Sciences, 2024
38731905 (PubMed )
Supplement: ijms-25-04686-s001.zip › ijms-2913894-supplementary.pdf
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