[HTML][HTML] Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis
E Martínez-Barrios, A Greco, J Cruzalegui, S Cesar… - Biomedicines, 2024 - mdpi.com
Background/Objectives: Inherited arrhythmogenic syndromes comprise a heterogenic group
of genetic entities that lead to malignant arrhythmias and sudden cardiac death. Genetic …
of genetic entities that lead to malignant arrhythmias and sudden cardiac death. Genetic …
[PDF][PDF] Hereditary Cerebellar Ataxias in the Era of Next Generation Sequencing
DFFP Ceia - 2022 - repositorio-aberto.up.pt
Background: Hereditary ataxias are a group of neurological disorders due to degeneration
of the cerebellum/cerebellar pathways, dorsal columns or sensitive nerves. In recent years …
of the cerebellum/cerebellar pathways, dorsal columns or sensitive nerves. In recent years …