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
Identification of a novel Scn3b mutation in a Chinese Brugada syndrome pedigree: implications for Nav1.5 electrophysiological properties and intracellular distribution of Nav1.5 and Navβ3.
Fan J et al.
Frontiers in Cardiovascular Medicine, 2024
38450374 (PubMed )
Supplement: Table9.xls › Sheet2
Structural basis for high-voltage activation and subtype-specific inhibition of human Nav1.8.
Huang X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Genetic Investigation of Inverse Psoriasis.
Göblös A et al.
Life (basel, Switzerland), 2021
Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population.
Zhang L et al.
International Journal of Legal Medicine, 2017
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
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