Genotype-phenotype correlation of rare variants in the SCN5A gene in children population
Sign Up to like & getrecommendations! Published in 2023 at "Europace"
DOI: 10.1093/europace/euad122.601
Abstract: Abstract Funding Acknowledgements Type of funding sources: None. Background Rare variants in the SCN5A gene have been associated with Brugada syndrome (BS), long QT syndrome type 3 (LQTS3), and other conduction disorders that can lead… read more here.
Keywords: rare variants; scn5a gene; variants scn5a; phenotype correlation ... See more keywords
Rare Compound Heterozygous Missense Mutation of the SCN5A Gene with Childhood-Onset Sick Sinus Syndrome in Two Chinese Sisters.
Sign Up to like & getrecommendations! Published in 2023 at "International heart journal"
DOI: 10.1536/ihj.22-515
Abstract: Sick sinus syndrome (SSS) is a group of syndromes characterized by pathological changes in the sinoatrial node and its adjacent tissues. Although several mutations in the SCN5A gene have been associated with early-onset SSS, pediatric… read more here.
Keywords: missense mutation; mutation; compound; scn5a gene ... See more keywords