A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1
A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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Inherited primary arrhythmias, such as long QT (LQT) syndromes, are electrical abnormalities of the heart mainly due to variants in 3 genes. We herein describe a novel stop-gain pathogenic variant in the KCNQ1 gene in an Iranian child with LQT syndrome 1.
The patient and his family underwent clinical evaluation, electrocardiographic Holter monit...
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A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1
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TN_cdi_doaj_primary_oai_doaj_org_article_d2b7c55f866848c0ab57690e32799aaf
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d2b7c55f866848c0ab57690e32799aaf
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ISSN
2047-783X,0949-2321
E-ISSN
2047-783X
DOI
10.1186/s40001-023-00984-0
