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AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature
Disease-associated pathogenic variants in the A-Kinase Anchor Protein 9 (AKAP9) (MIM *604001) have been recently identified in patients with autosomal dominant long QT syndrome 11 (MIM #611820), lethal arrhythmia (ventricular fibrillation, polymorphic ventricular tachycardia), Brugada syndrome, and...
Autores principales: | Huynh, Minh-Tuan, Proust, Alexis, Bouligand, Jérôme, Popescu, Elena |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690169/ https://www.ncbi.nlm.nih.gov/pubmed/36421840 http://dx.doi.org/10.3390/genes13112167 |
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