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Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome

Background: The KCNJ2 gene encodes inward rectifier Kir2.1 channels, maintaining resting potential and cell excitability. Presumably, clinical phenotypes of mutation carriers correlate with ion permeability defects. Loss-of-function mutations lead to QTc prolongation with variable dysmorphic feature...

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Detalles Bibliográficos
Autores principales:	Zaklyazminskaya, Elena, Polyak, Margarita, Shestak, Anna, Sadekova, Mariam, Komoliatova, Vera, Kiseleva, Irina, Makarov, Leonid, Podolyak, Dmitriy, Glukhov, Grigory, Zhang, Han, Abramochkin, Denis, Sokolova, Olga S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9025978/ https://www.ncbi.nlm.nih.gov/pubmed/35456365 http://dx.doi.org/10.3390/genes13040559

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