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L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance

(1) Background: Defects in gene CACNA1C, which encodes the pore-forming subunit of the human Cav1.2 channel (hCav1.2), are associated with cardiac disorders such as atrial fibrillation, long QT syndrome, conduction disorders, cardiomyopathies, and congenital heart defects. Clinical manifestations ar...

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Detalles Bibliográficos
Autores principales: Tarnovskaya, Svetlana I., Kostareva, Anna A., Zhorov, Boris S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8399957/
https://www.ncbi.nlm.nih.gov/pubmed/34436362
http://dx.doi.org/10.3390/membranes11080599