Associated Papers
Novel variants in PABPC1L cause female infertility due to oocyte maturation defects.
Pan Z et al.
Journal of Assisted Reproduction and Genetics, 2026
SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS).
Chaloemthanetphong A et al.
Forensic Science International. Genetics, 2025
Demographics, Clinical Features and Genetics of Common Inherited Arrhythmias in Oman.
Al Azri K et al.
Journal of the Saudi Heart Association, 2025
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
35932045 (PubMed )
Supplement: 40246_2022_402_MOESM5_ESM.xlsx › Additional_File_5
Reclassification of genetic variants in children with long QT syndrome.
Westphal DS et al.
Molecular Genetics & Genomic Medicine, 2020
Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome.
Suktitipat B et al.
Plos One, 2017
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.
Wilde AA et al.
Circulation Research, 2011
Mouse models of SCN5A-related cardiac arrhythmias.
Charpentier F et al.
Progress in Biophysics and Molecular Biology, 0
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