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
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
Common variants in SCN10A gene associated with Brugada syndrome.
Huang Y et al.
Human Molecular Genetics, 2021
Association of T66A polymorphism in CASQ2 with PR interval in a Chinese population.
Li X et al.
Herz, 2021
Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.
Fonseca DJ et al.
Pharmacogenomics and Personalized Medicine, 2021
Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.
Nettuwakul C et al.
Scientific Reports, 2018
29992996 (PubMed )
Supplement: 41598_2018_28623_MOESM1_ESM.pdf
Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction.
Macri V et al.
Circulation. Genomic and Precision Medicine, 2018
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
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Behr ER et al.
Cardiovascular Research, 2015
Common and rare variants in SCN10A modulate the risk of atrial fibrillation.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2015
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
24972929 (PubMed )
Supplement: emmm0006-0937-SD4.pdf
Genetic polymorphisms of SCN10A are associated with functional dyspepsia in Japanese subjects.
Arisawa T et al.
Journal of Gastroenterology, 2013
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
Sotoodehnia N et al.
Nature Genetics, 2010
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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